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+ Genes 746

Genes:
AAK1, AAMDC, AC005609.1, AC007952.5, AC010536.1, AC012123.1, AC018755.1, AC062017.1, AC068620.1, AC074212.3, AC090616.2, AC096644.1, AC104667.3, AC110771.1, ACIN1, ACSL6, ADAM29, ADAM33, ADAMTS1, ADAMTS19, ADAMTS7, ADAMTS8, ADAMTSL1, ADCK5, ADRA2B, AFAP1L2, AGAP1, AHSA1, AK5, AK9, AKAP12, AKAP9, AL133373.1, AL445989.1, ALDH3B1, ALG1, ALG9, ALLC, ALMS1, ALPK1, ALPK2, ALYREF, ANKRD31, ANKRD36, ANKRD36C, ANKRD40, ANP32E, AOAH, AP001468.1, AP1S3, APOL4, AQP12B, AR, ARFRP1, ARHGEF15, ARHGEF37, ARHGEF5, ART5, ASCC2, ASPHD1, ASPN, ATF7IP2, ATG3, ATG9B, ATN1, ATXN1, ATXN2, ATXN3, ATXN7, ATXN7L1, B3GNT6, BAIAP2L2, BCL6B, BCR, BHLHE22, BMP2K, BMP6, BPTF, BRI3BP, C11orf40, C11orf80, C12orf56, C12orf60, C14orf180, C14orf23, C16orf3, C17orf100, C17orf103, C18orf25, C19orf33, C19orf55, C21orf49, C22orf43, C2CD3, C2orf49, C2orf70, C2orf71, C4orf50, C4orf6, C6orf164, C6orf223, C8orf59, C8orf86, CABP1, CACNA1A, CACNA1B, CADM1, CAMKK2, CARD10, CASZ1, CCDC129, CCDC177, CCDC180, CCDC33, CCDC66, CD163L1, CD177, CD207, CD34, CDCP2, CDH23, CDK11A, CDKN2AIP, CDRT4, CELA1, CELSR2, CENPV, CEP170, CHDC2, CHGA, CHIA, CHL1, CHRFAM7A, CHRNA3, CHST15, CHTF18, CIDEA, CLCA4, CLDN7, CLECL1, CLTCL1, CLYBL, CNDP1, CNOT1, CNTNAP2, CNTNAP4, COBL, COL18A1, COL26A1, COL6A5, COMT, COPRS, COPZ2, CPS1, CRCT1, CREB3L1, CREB3L2, CRLF1, CTC-241N9.1, CTD-3193O13.9, CTSA, CTU2, CWC15, CYFIP2, CYP2C8, CYP2D7P, CYP2F1, CYP4B1, DACH1, DACT2, DCAF15, DCAF7, DCAF8L2, DCHS1, DCHS2, DCP1A, DCP1B, DDHD1, DDX51, DEFB126, DEFB132, DENND2A, DENND4B, DIXDC1, DLX6, DMRTB1, DNASE1, DNHD1, DOK3, E2F4, EBLN2, EFCAB13, EFNA3, EI24, EIF3G, EMC4, EMCN, EMG1, ENOSF1, EOMES, EPDR1, ERGIC1, ERI1, ESRRA, ESX1, ETV2, ETV6, EXOC3L4, EXOC6B, FADS6, FAM155A, FAM166B, FAM171B, FAM174B, FAM186A, FAM189A2, FAM194A, FAM208B, FAM20C, FAM228A, FAM228B, FAM57A, FAM58A, FAM71E2, FAM83G, FAM90A1, FAM98C, FBXL21, FERD3L, FGFRL1, FMN2, FMNL2, FNBP4, FNDC1, FOXC1, FOXD1, FOXD2, FOXE1, FOXF2, FRG1B, FSIP2, FZD1, GABRG3, GALNT9, GAS2L1, GGN, GIGYF2, GLIPR1L2, GOLGA6L2, GOLGA6L6, GOLGA8I, GOLGA8R, GP6, GPATCH4, GPR112, GPRIN2, GPSM2, GPX1, GREB1L, GRIA3, GRIN2C, GRM7, GRTP1, GRWD1, GSPT1, H6PD, HADHB, HAVCR1, HCLS1, HDGFRP2, HEG1, HERC2, HLA-B, HNF1A, HOMEZ, HOXD8, HRC, HRCT1, HRNR, HS3ST6, HSH2D, HSPA9, HSPBP1, HTT, HUWE1, ICA1, ICA1L, IFI27, IFI44, IGFBP2, IGHJ6, IGHV3-48, IGLJ2, IGLV3-16, IGLV3-22, IGLV4-60, IGLV5-45, IGSF3, IL32, ILK, IPO4, IQSEC1, IRAK1BP1, IRF2BPL, IRF5, ITGB1BP1, ITIH1, ITIH5, ITPKB, KCNG2, KCNJ12, KCNMA1, KCNN2, KCNN3, KDM6B, KIAA0040, KIAA0430, KIAA2018, KIF1A, KIF20B, KISS1, KLF17, KLHL23, KLRF1, KMT2B, KMT2C, KRBA1, KRI1, KRT1, KRT10, KRT2, KRT24, KRT3, KRT4, KRTAP10-2, KRTAP10-6, KRTAP10-7, KRTAP17-1, KRTAP19-6, KRTAP2-4, KRTAP29-1, KRTAP4-1, KRTAP4-5, KRTAP4-8, KRTAP5-1, KRTAP5-2, KRTAP5-5, KRTAP9-1, KRTAP9-8, KRTAP9-9, LAT2, LATS2, LCA10, LCE4A, LENG9, LEPREL2, LIN7B, LINC00955, LINC01100, LNP1, LOR, LRRC17, LRRC49, LSR, LTBP4, LTF, LURAP1L, MADCAM1, MAFA, MAL2, MAML2, MAML3, MAN2A1, MANEA, MAP2K3, MAP3K1, MAP3K4, MAPK8IP2, MAST4, MDK, MED15, MEF2A, MEGF9, MEOX2, MESP1, MESP2, METRN, MICALCL, MMP17, MMP28, MPRIP, MPV17, MROH7, MROH8, MRPL18, MS4A14, MSH3, MTCH1, MUC12, MUC13, MUC16, MUC19, MUC3A, MUC4, MUC6, MYCT1, MYL7, MYLK, MYO15B, MYO18A, MYO5B, NCAM1, NCOR2, NEFH, NEK3, NINL, NIT2, NLRC3, NLRC5, NME4, NOP16, NOP9, NOX1, NOX4, NPIPB15, NPRL3, NPVF, NR1H2, NRD1, NUDT11, NUDT18, NUP54, NUTM2F, OAS1, OBP2A, OFCC1, OLFM1, OLIG1, OPLAH, OR10J4, OR11G2, OR13C2, OR13C5, OR14A16, OR2A14, OR2B11, OR2T27, OR2T35, OR2T4, OR2T7, OR4C3, OR4C5, OR4Q2, OR4X1, OR52B4, OR52D1, OR5H15, OR5M1, OR6C75, OR6C76, OR7C2, OR8U1, ORAI1, OTUD7A, OVGP1, P2RX5, PABPC3, PAPPA-AS1, PAX1, PBOV1, PCDH12, PCDHGA6, PCGF6, PCLO, PCSK5, PCSK6, PDCD6, PDE11A, PDE4C, PDE4DIP, PDHA1, PEBP4, PER3, PF4, PGPEP1L, PHF2, PHGR1, PHLDA1, PHLDB1, PIK3C2G, PIK3R6, PITX1, PKD1L2, PLA2G4E, PLBD1, PLCD3, PLCH2, PLCZ1, PLEKHA2, PLK5, PMP22, PMS1, PNLIPRP2, PNMAL2, PODXL, POLDIP2, POLI, POLR1B, POMZP3, POTEG, POU2F1, POU4F1, POU4F2, PPFIA4, PPFIBP2, PPM1E, PPP1R9B, PRB3, PRDM15, PRDM2, PRICKLE4, PRIM2, PRKCSH, PRKDC, PRSS3, PRUNE2, PSG4, PTCHD3, PTPN18, PTPN4, PTPRQ, QRICH2, RAB36, RAB40C, RAB5C, RAD23B, RAI1, RALY, RBM23, RBM6, RBMXL3, REC8, RECQL4, REPIN1, RERE, RETSAT, REXO1, RFWD2, RGS11, RIBC2, RIC8A, RIN3, RMDN2, RNASEH2C, RNF212, ROBO3, ROM1, RP11-131H24.4, RP11-156E8.1, RP11-166B2.1, RP11-181C3.1, RP11-383H13.1, RP11-758M4.1, RP11-812E19.9, RP1L1, RPL14, RRBP1, RRP36, RSPH6A, RTL1, RTTN, RYK, RYR1, SAAL1, SARM1, SBK3, SCAMP1, SCARF2, SCUBE2, SDHA, SELPLG, SENP3, SERINC2, SERINC4, SETD1B, SGK223, SH3BGR, SHPRH, SHROOM4, SIRPA, SIRPB1, SKIDA1, SKOR1, SLAIN1, SLC16A7, SLC22A1, SLC22A9, SLC25A35, SLC35B3, SLC37A4, SLC38A10, SLC46A1, SLC5A10, SLC5A4, SLC9B1, SLC9B1P1, SMAD5, SMARCA2, SMPDL3B, SNRPC, SON, SPAG8, SPATA3, SPATA7, SPIRE2, SPRED3, SPRR3, SPTB, SPTBN2, SRA1, SRL, SRRM3, SRSF8, SSBP4, STAU2, STUB1, SULT1C3, SYNGR1, SYNJ1, SYNM, SYNPO, SYNPO2, TAF1D, TAF4, TBP, TCEAL6, TCF25, TCHH, TCP11, TDG, TDRP, TEX13A, TIGD6, TLR4, TMBIM4, TMEM121, TMEM184A, TMEM229A, TMEM247, TMEM37, TMEM52, TMEM80, TMEM87B, TMIE, TMPRSS13, TMX3, TNFAIP6, TNRC18, TOP1MT, TP53I11, TP53INP1, TP53TG5, TPD52, TPTE, TPTE2, TRAJ36, TRAJ37, TRAK1, TRBV10-1, TRBV11-1, TRBV7-3, TREH, TRIM29, TRIM5, TRIOBP, TSHZ1, TSPAN10, TSPYL1, TSPYL6, TTC39B, TTLL3, UBR4, UBXN11, UCHL3, UNC93B1, UNKL, UPP2, URI1, USP20, USP26, USP36, VCX, VEGFC, VPS11, VSIG10, VSIG10L, VTN, VWDE, WBSCR27, WDR41, WDR63, WDR66, WDR73, WDR87, WNK1, WWC1, WWTR1, YEATS2, ZAN, ZBTB10, ZBTB33, ZCCHC3, ZCCHC6, ZFPM1, ZIC5, ZNF107, ZNF2, ZNF232, ZNF233, ZNF274, ZNF275, ZNF283, ZNF284, ZNF3, ZNF302, ZNF384, ZNF408, ZNF433, ZNF480, ZNF516, ZNF525, ZNF544, ZNF559, ZNF586, ZNF598, ZNF626, ZNF714, ZNF717, ZNF720, ZNF778, ZNF787, ZNF804A, ZNF816, ZNF83, ZNF852, ZNF880,

+ Genes associated with diseases 138

Genes at Omim

ACSL6, ADRA2B, AKAP9, ALG1, ALG9, ALMS1, AP1S3, APOL4, AR, ASPN, ATN1, ATXN1, ATXN2, ATXN3, ATXN7, BCR, BPTF, C2CD3, CACNA1A, CACNA1B, CD207, CDH23, CHRNA3, CNTNAP2, COL18A1, COMT, CPS1, CREB3L1, CRLF1, CTSA, CTU2, CYFIP2, CYP2C8, DCHS1, DDHD1, DNASE1, EMG1, ERGIC1, ETV6, FAM20C, FAM58A, FMN2, FOXC1, FOXE1, FSIP2, GIGYF2, GP6, GPSM2, GPX1, GREB1L, GRIA3, H6PD, HADHB, HERC2, HLA-B, HNF1A, HSPA9, HTT, HUWE1, IGSF3, IRF2BPL, IRF5, KCNMA1, KIF1A, KISS1, KMT2B, KMT2C, KRT1, KRT10, KRT2, KRT3, KRT4, LOR, LTBP4, MAFA, MAML2, MAP3K1, MEF2A, MESP2, MPV17, MSH3, MYLK, MYO5B, NEFH, NPRL3, OPLAH, ORAI1, PAX1, PCDH12, PCLO, PDE11A, PDHA1, PER3, PITX1, PLCZ1, PMP22, PRKCSH, PRKDC, PTPRQ, QRICH2, RAI1, RECQL4, RERE, RNASEH2C, RNF212, ROBO3, ROM1, RP1L1, RTTN, RYR1, SCARF2, SDHA, SHROOM4, SLC37A4, SLC46A1, SMARCA2, SON, SPATA7, SPTB, SPTBN2, STUB1, SYNJ1, TBP, TCHH, TMIE, TRAK1, TREH, TRIOBP, TSHZ1, TSPYL1, UNC93B1, VEGFC, VPS11, WDR66, WDR73, WNK1, WWC1, ZNF408,
ACSL6 Myelodysplastic syndrome (3)
Myelogenous leukemia, acute (3)
ADRA2B Epilepsy, myoclonic, familial adult, 2, 607876 (3)
AKAP9 ?Long QT syndrome-11, 611820 (3)
ALG1 Congenital disorder of glycosylation, type Ik, 608540 (3)
ALG9 Gillessen-Kaesbach-Nishimura syndrome, 263210 (3)
Congenital disorder of glycosylation, type Il, 608776 (3)
ALMS1 Alstrom syndrome, 203800 (3)
AP1S3 {Psoriasis 15, pustular, susceptibility to}, 616106 (3)
APOL4 {Schizophrenia}, 181500 (1)
AR Androgen insensitivity, 300068 (3)
Androgen insensitivity, partial, with or without breast cancer, 312300 (3)
Hypospadias 1, X-linked, 300633 (3)
{Prostate cancer, susceptibility to}, 176807 (3)
Spinal and bulbar muscular atrophy of Kennedy, 313200 (3)
ASPN {Lumbar disc degeneration}, 603932 (3)
{Osteoarthritis susceptibility 3}, 607850 (3)
ATN1 Dentatorubro-pallidoluysian atrophy, 125370 (3)
ATXN1 Spinocerebellar ataxia 1, 164400 (3)
ATXN2 {Parkinson disease, late-onset, susceptibility to}, 168600 (3)
Spinocerebellar ataxia 2, 183090 (3)
{Amyotrophic lateral sclerosis, susceptibility to, 13}, 183090 (3)
ATXN3 Machado-Joseph disease, 109150 (3)
ATXN7 Spinocerebellar ataxia 7, 164500 (3)
BCR Leukemia, acute lymphocytic, somatic, 613065 (3)
Leukemia, chronic myeloid, somatic, 608232 (3)
BPTF Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, 617755 (3)
C2CD3 ?Orofaciodigital syndrome XIV, 615948 (3)
CACNA1A Epileptic encephalopathy, early infantile, 42, 617106 (3)
Episodic ataxia, type 2, 108500 (3)
Migraine, familial hemiplegic, 1, 141500 (3)
Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, 141500 (3)
Spinocerebellar ataxia 6, 183086 (3)
CACNA1B ?Dystonia 23, 614860 (3)
CD207 [?Birbeck granule deficiency], 613393 (3)
CDH23 Deafness, autosomal recessive 12, 601386 (3)
{Pituitary adenoma 5, multiple types}, 617540 (3)
Usher syndrome, type 1D, 601067 (3)
Usher syndrome, type 1D/F digenic, 601067 (3)
CHRNA3 {Lung cancer susceptibility 2}, 612052 (3)
CNTNAP2 Cortical dysplasia-focal epilepsy syndrome, 610042 (3)
Pitt-Hopkins like syndrome 1, 610042 (3)
{Autism susceptibility 15}, 612100 (3)
COL18A1 Knobloch syndrome, type 1, 267750 (3)
COMT {Panic disorder, susceptibility to}, 167870 (3)
{Schizophrenia, susceptibility to}, 181500 (3)
CPS1 Carbamoylphosphate synthetase I deficiency, 237300 (3)
{Pulmonary hypertension, neonatal, susceptibility to}, 615371 (3)
{Venoocclusive disease after bone marrow transplantation} (3)
CREB3L1 Osteogenesis imperfecta, type XVI, 616229 (3)
CRLF1 Cold-induced sweating syndrome 1, 272430 (3)
CTSA Galactosialidosis, 256540 (3)
CTU2 Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, 618142 (3)
CYFIP2 Epileptic encephalopathy, early infantile, 65, 618008 (3)
CYP2C8 {Drug metabolism, altered, CYP2C8-related}, 618018 (3)
DCHS1 Mitral valve prolapse 2, 607829 (3)
Van Maldergem syndrome 1, 601390 (3)
DDHD1 Spastic paraplegia 28, autosomal recessive, 609340 (3)
DNASE1 {Systemic lupus erythematosus, susceptibility to}, 152700 (3)
EMG1 Bowen-Conradi syndrome, 211180 (3)
ERGIC1 ?Arthrogryposis multiplex congenita, neurogenic type, 208100 (3)
ETV6 Leukemia, acute myeloid, somatic, 601626 (3)
Thrombocytopenia 5, 616216 (3)
FAM20C Raine syndrome, 259775 (3)
FAM58A STAR syndrome, 300707 (3)
FMN2 Mental retardation, autosomal recessive 47, 616193 (3)
FOXC1 Anterior segment dysgenesis 3, multiple subtypes, 601631 (3)
Axenfeld-Rieger syndrome, type 3, 602482 (3)
FOXE1 Bamforth-Lazarus syndrome, 241850 (3)
{Thyroid cancer, nonmedullary, 4}, 616534 (3)
FSIP2 Spermatogenic failure 34, 618153 (3)
GIGYF2 {Parkinson disease 11}, 607688 (3)
GP6 Bleeding disorder, platelet-type, 11, 614201 (3)
GPSM2 Chudley-McCullough syndrome, 604213 (3)
GPX1 Hemolytic anemia due to glutathione peroxidase deficiency, 614164 (1)
GREB1L Renal hypodysplasia/aplasia 3, 617805 (3)
GRIA3 Mental retardation, X-linked 94, 300699 (3)
H6PD Cortisone reductase deficiency 1, 604931 (3)
HADHB Trifunctional protein deficiency, 609015 (3)
HERC2 Mental retardation, autosomal recessive 38, 615516 (3)
[Skin/hair/eye pigmentation 1, blond/brown hair], 227220 (3)
[Skin/hair/eye pigmentation 1, blue/nonblue eyes], 227220 (3)
HLA-B {Spondyloarthropathy, susceptibility to, 1}, 106300 (3)
{Stevens-Johnson syndrome, susceptibility to}, 608579 (3)
{Synovitis, chronic, susceptibility to} (3)
{Toxic epidermal necrolysis, susceptibility to}, 608579 (3)
{Abacavir hypersensitivity, susceptibility to} (3)
{Drug-induced liver injury due to flucloxacillin} (3)
HNF1A Hepatic adenoma, somatic, 142330 (3)
Diabetes mellitus, insulin-dependent, 20, 612520 (3)
MODY, type III, 600496 (3)
Renal cell carcinoma, 144700 (3)
{Diabetes mellitus, insulin-dependent}, 222100 (3)
{Diabetes mellitus, noninsulin-dependent, 2}, 125853 (3)
HSPA9 Anemia, sideroblastic, 4, 182170 (3)
Even-plus syndrome, 616854 (3)
HTT Huntington disease, 143100 (3)
Lopes-Maciel-Rodan syndrome, 617435 (3)
HUWE1 Mental retardation, X-linked syndromic, Turner type, 300706 (3)
IGSF3 ?Lacrimal duct defect, 149700 (3)
IRF2BPL Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, 618088 (3)
IRF5 {Inflammatory bowel disease 14}, 612245 (3)
{Systemic lupus erythematosus, susceptibility to, 10}, 612251 (3)
KCNMA1 Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446 (3)
?Cerebellar atrophy, developmental delay, and seizures, 617643 (3)
KIF1A Mental retardation, autosomal dominant 9, 614255 (3)
Neuropathy, hereditary sensory, type IIC, 614213 (3)
Spastic paraplegia 30, autosomal recessive, 610357 (3)
KISS1 ?Hypogonadotropic hypogonadism 13 with or without anosmia, 614842 (3)
KMT2B Dystonia 28, childhood-onset, 617284 (3)
KMT2C Kleefstra syndrome 2, 617768 (3)
KRT1 Ichthyosis histrix, Curth-Macklin type, 146590 (3)
Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3)
Epidermolytic hyperkeratosis, 113800 (3)
Keratosis palmoplantaris striata III, 607654 (3)
Palmoplantar keratoderma, epidermolytic, 144200 (3)
Palmoplantar keratoderma, nonepidermolytic, 600962 (3)
KRT10 Ichthyosis with confetti, 609165 (3)
Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3)
Epidermolytic hyperkeratosis, 113800 (3)
KRT2 Ichthyosis bullosa of Siemens, 146800 (3)
KRT3 Meesmann corneal dystrophy, 122100 (3)
KRT4 White sponge nevus 1, 193900 (3)
LOR Vohwinkel syndrome with ichthyosis, 604117 (3)
LTBP4 Cutis laxa, autosomal recessive, type IC, 613177 (3)
MAFA Insulinomatosis and diabetes mellitus, 147630 (3)
MAML2 Mucoepidermoid salivary gland carcinoma (3)
MAP3K1 46XY sex reversal 6, 613762 (3)
MEF2A {Coronary artery disease, autosomal dominant, 1}, 608320 (3)
MESP2 Spondylocostal dysostosis 2, autosomal recessive, 608681 (3)
MPV17 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810 (3)
MSH3 Familial adenomatous polyposis 4, 617100 (3)
Endometrial carcinoma, somatic, 608089 (3)
MYLK Aortic aneurysm, familial thoracic 7, 613780 (3)
MYO5B Microvillus inclusion disease, 251850 (3)
NEFH Charcot-Marie-Tooth disease, axonal, type 2CC, 616924 (3)
?{Amyotrophic lateral sclerosis, susceptibility to}, 105400 (3)
NPRL3 Epilepsy, familial focal, with variable foci 3, 617118 (3)
OPLAH 5-oxoprolinase deficiency, 260005 (3)
ORAI1 Immunodeficiency 9, 612782 (3)
Myopathy, tubular aggregate, 2, 615883 (3)
PAX1 ?Otofaciocervical syndrome 2, 615560 (3)
PCDH12 Microcephaly, seizures, spasticity, and brain calcification, 251280 (3)
PCLO ?Pontocerebellar hypoplasia, type 3, 608027 (3)
PDE11A Pigmented nodular adrenocortical disease, primary, 2, 610475 (3)
PDHA1 Pyruvate dehydrogenase E1-alpha deficiency, 312170 (3)
PER3 ?Advanced sleep phase syndrome, familial, 3, 616882 (3)
PITX1 Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, 119800 (3)
Liebenberg syndrome, 186550 (4)
PLCZ1 ?Spermatogenic failure 17, 617214 (3)
PMP22 Charcot-Marie-Tooth disease, type 1A, 118220 (3)
Charcot-Marie-Tooth disease, type 1E, 118300 (3)
Dejerine-Sottas disease, 145900 (3)
Neuropathy, recurrent, with pressure palsies, 162500 (3)
?Neuropathy, inflammatory demyelinating, 139393 (3)
Roussy-Levy syndrome, 180800 (3)
PRKCSH Polycystic liver disease 1, 174050 (3)
PRKDC Immunodeficiency 26, with or without neurologic abnormalities, 615966 (3)
PTPRQ Deafness, autosomal dominant 73, 617663 (3)
Deafness, autosomal recessive 84A, 613391 (3)
QRICH2 Spermatogenic failure 35, 618341 (3)
RAI1 Smith-Magenis syndrome, 182290 (3)
RECQL4 Baller-Gerold syndrome, 218600 (3)
RAPADILINO syndrome, 266280 (3)
Rothmund-Thomson syndrome, 268400 (3)
RERE Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart, 616975 (3)
RNASEH2C Aicardi-Goutieres syndrome 3, 610329 (3)
RNF212 Recombination rate QTL 1, 612042 (3)
ROBO3 Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 (3)
ROM1 Retinitis pigmentosa 7, digenic form, 608133 (3)
RP1L1 Occult macular dystrophy, 613587 (3)
RTTN Microcephaly, short stature, and polymicrogyria with seizures, 614833 (3)
RYR1 Central core disease, 117000 (3)
{Malignant hyperthermia susceptibility 1}, 145600 (3)
King-Denborough syndrome, 145600 (3)
Minicore myopathy with external ophthalmoplegia, 255320 (3)
Neuromuscular disease, congenital, with uniform type 1 fiber, 117000 (3)
SCARF2 Van den Ende-Gupta syndrome, 600920 (3)
SDHA Cardiomyopathy, dilated, 1GG, 613642 (3)
Leigh syndrome, 256000 (3)
Mitochondrial respiratory chain complex II deficiency, 252011 (3)
Paragangliomas 5, 614165 (3)
SHROOM4 Stocco dos Santos X-linked mental retardation syndrome, 300434 (3)
SLC37A4 Glycogen storage disease Ib, 232220 (3)
Glycogen storage disease Ic, 232240 (3)
SLC46A1 Folate malabsorption, hereditary, 229050 (3)
SMARCA2 Nicolaides-Baraitser syndrome, 601358 (3)
SON ZTTK syndrome, 617140 (3)
SPATA7 Leber congenital amaurosis 3, 604232 (3)
Retinitis pigmentosa, juvenile, autosomal recessive, 604232 (3)
SPTB Anemia, neonatal hemolytic, fatal or near-fatal, 617948 (3)
Elliptocytosis-3, 617948 (3)
Spherocytosis, type 2, 616649 (3)
SPTBN2 Spinocerebellar ataxia 5, 600224 (3)
Spinocerebellar ataxia, autosomal recessive 14, 615386 (3)
STUB1 ?Spinocerebellar ataxia 48, 618093 (3)
Spinocerebellar ataxia, autosomal recessive 16, 615768 (3)
SYNJ1 Epileptic encephalopathy, early infantile, 53, 617389 (3)
Parkinson disease 20, early-onset, 615530 (3)
TBP {Parkinson disease, susceptibility to}, 168600 (3)
Spinocerebellar ataxia 17, 607136 (3)
TCHH ?Uncombable hair syndrome 3, 617252 (3)
TMIE Deafness, autosomal recessive 6, 600971 (3)
TRAK1 Epileptic encephalopathy, early infantile, 68, 618201 (3)
TREH Trehalase deficiency, 612119 (3)
TRIOBP Deafness, autosomal recessive 28, 609823 (3)
TSHZ1 Aural atresia, congenital, 607842 (3)
TSPYL1 Sudden infant death with dysgenesis of the testes syndrome, 608800 (3)
UNC93B1 {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, 610551 (3)
VEGFC Lymphatic malformation 4, 615907 (3)
VPS11 Leukodystrophy, hypomyelinating, 12, 616683 (3)
WDR66 Spermatogenic failure 33, 618152 (3)
WDR73 Galloway-Mowat syndrome 1, 251300 (3)
WNK1 Neuropathy, hereditary sensory and autonomic, type II, 201300 (3)
Pseudohypoaldosteronism, type IIC, 614492 (3)
WWC1 [Memory, enhanced, QTL], 615602 (3)
ZNF408 ?Exudative vitreoretinopathy 6, 616468 (3)
Retinitis pigmentosa 72, 616469 (3)

Genes at Clinical Genomics Database

AKAP9, ALG1, ALG9, ALMS1, AP1S3, AR, ATN1, ATXN1, ATXN2, ATXN3, ATXN7, BCR, C2CD3, CACNA1A, CACNA1B, CD207, CDH23, CNTNAP2, COL18A1, COMT, CPS1, CREB3L1, CRLF1, CTSA, CYP2C8, DCHS1, DNASE1, EMG1, ETV6, FAM20C, FAM58A, FMN2, FOXC1, FOXE1, GIGYF2, GP6, GPSM2, GRIA3, H6PD, HADHB, HERC2, HLA-B, HNF1A, HSPA9, HTT, HUWE1, IGSF3, KCNMA1, KIF1A, KISS1, KRT1, KRT10, KRT2, KRT3, KRT4, LOR, LTBP4, MAP3K1, MESP2, MPV17, MSH3, MYLK, MYO5B, NEFH, OPLAH, ORAI1, PAX1, PDE11A, PDHA1, PER3, PITX1, PMP22, PRKCSH, PRKDC, PTPRQ, RAI1, RECQL4, RNASEH2C, ROBO3, ROM1, RP1L1, RTTN, RYR1, SCARF2, SDHA, SHROOM4, SLC37A4, SLC46A1, SMARCA2, SPATA7, SPTB, SPTBN2, STUB1, TBP, TMIE, TRIOBP, TSHZ1, TSPYL1, UNC93B1, VEGFC, VPS11, WDR73, WNK1, ZNF408, ZNF480,
AKAP9 Long QT syndrome 11
ALG1 Congenital disorder of glycosylation, type Ik
ALG9 Congenital disorder of glycosylation, type Il
ALMS1 Alstrom syndrome
AP1S3 Psoriasis 15, pustular, susceptibility to
AR Androgen insensitivity
Androgen insensitivity, partial
ATN1 Dentatorubro-pallidoluysian atrophy
ATXN1 Spinocerebellar ataxia 1
ATXN2 Spinocerebellar ataxia 2
ATXN3 Spinocerebellar ataxia 3 (Machado-Joseph disease)
ATXN7 Spinocerebellar ataxia 7
BCR CML treatment, response to
C2CD3 Orofaciodigital syndrome XIV
CACNA1A Episodic ataxia, type 2
Migraine, familial hemiplegic 1
CACNA1B Dystonia 23
CD207 Birbeck granule deficiency
CDH23 Deafness, autosomal recessive 12
Usher syndrome, type 1D
Usher syndrome, type 1D /F digenic
CNTNAP2 Cortical dysplasia-focal epilepsy syndrome
Pitt-Hopkins like syndrome 1
COL18A1 Knobloch syndrome 1
COMT Medication response, association with
CPS1 Carbamoylphosphate synthetase I deficiency
CREB3L1 Osteogenesis imperfecta, type XVI
CRLF1 Crisponi syndrome
Cold-induced sweating syndrome, type 1
CTSA Galactosialidosis
CYP2C8 Rhabdomyolysis, cerivastatin-induced
DCHS1 Mitral valve prolapse 2
DNASE1 Macular dystrophy, North Carolina type
EMG1 Bowen-Conradi syndrome
ETV6 Thrombocytopenia 5
FAM20C Hypophosphatemia,hyperphosphaturia, dental anomalies, intracerebral calcifications and osteosclerosis (Raine syndrome)
FAM58A STAR syndrome
Toe syndactyly, telecanthus, and anogenital and renal malformations
FMN2 Mental retardation, autosomal recessive, 47
FOXC1 Peters anomaly
Axenfeld-Rieger syndrome, type 3
Iridogoiodysgenesis, type 1
FOXE1 Thyroid cancer, nonmedullary 4
Hypothyroidism, thyroidal, with spiky hair and cleft palate (Bamforth-Lazarus syndrome)
Congenital hypothyroidism
GIGYF2 Parkinson disease, autosomal dominant, 11
GP6 Bleeding disorder, platelet-type, 11
GPSM2 Chudley-McCullough syndrome
Deafness, autosomal recessive 82
GRIA3 Mental retardation, X-linked 94
H6PD Cortisone reductase deficiency
HADHB Trifunctional protein deficiency
HERC2 Skin/hair/eye pigmentation 1
Mental retardation, autosomal recessive 38
HLA-B Drug-induced toxicity, susceptibility to
HNF1A Renal cell carcinoma, nonpapillary clear cell
Liver adenomatosis
Maturity onset diabetes of the young, type III
HSPA9 Anemia, sideroblastic 4
HTT Huntington disease
HUWE1 Mental retardation, X-linked syndromic, Turner type
IGSF3 Lacrimal duct defect
KCNMA1 Generalized epilepsy and paroxysmal dyskinesia
KIF1A Mental retardation, autosomal dominant 9
Neuropathy, hereditary sensory, type IIC
Spastic paraplegia 30, autosomal recessive
KISS1 Hypogonadotropic hypogonadism 13 with or without anosmia
KRT1 Keratosis palmoplantaris striata III
Ichthyosis, cyclic, with epidermolytic hyperkeratosis
Ichthyosis histrix, Curth-Macklin type
Palmoplantar keratoderma, epidermolytic
Palmoplantar keratoderma, nonepidermolytic
Epidermolytic hyperkeratosis
KRT10 Erythroderma, ichthyosiform, congenital reticular
Aaru disease
Ichthyosis, cyclic, with epidermolytic hyperkeratosis
Epidermolytic hyperkeratosis
Ichthyosis with confetti
KRT2 Ichthyosis bullosa of Siemens
Ichthyosis exfoliativa
KRT3 Meesmann corneal dystrophy
KRT4 White sponge nevus 1
LOR Vohwinkel syndrome, variant form
LTBP4 Cutis laxa with severe pulmonary, gastrointestinal, and urinary abnormalities
MAP3K1 46,XY sex reversal 6
MESP2 Spondylocostal dysostosis 2, autosomal recessive
MPV17 Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
MSH3 Endometrial carcinoma
MYLK Aortic aneurysm, familial thoracic 7
MYO5B Diarrhea 2, with microvillus atrophy
NEFH Charcot-Marie-Tooth disease, axonal, type 2CC
OPLAH 5-oxoprolinase deficiency
ORAI1 Immunodeficiency 9
PAX1 Otofaciocervical syndrome 2
PDE11A Pigmented nodular adrenocortical disease, primary, 2
PDHA1 Pyruvate dehydrogenase E1-alpha deficiency
Leigh syndrome, X-linked
PER3 Advanced sleep phase syndrome, familial, 3
PITX1 Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly
Liebenberg syndrome
PMP22 Roussy-Levy syndrome
Charcot-Marie-Tooth syndrome, type 1A
Charcot-Marie-Tooth syndrome with deafness (type 1E)
Neuropathy, hereditary, with liability to pressurve palsies
Dejerine-Sottas disease
Neuropathy, inflammatory demyelinating
PRKCSH Polycystic liver disease
PRKDC Immunodeficiency 26 with or without neurologic abnormalities
PTPRQ Deafness, autosomal recessive 84
RAI1 Smith-Magenis syndrome
RECQL4 Baller-Gerold syndrome
RAPADILINO syndrome
Rothmund-Thomson syndrome
RNASEH2C Aicardi-Goutieres syndrome 3
ROBO3 Gaze palsy, horizontal, with progressive scoliosis
ROM1 Retinitis pigmentosa 7, digenic
RP1L1 Occult macular dystrophy
Retinitis pigmentosa, autosomal recessive
RTTN Microcephaly, short stature, and polymicrogyria with or without seizures
RYR1 Malignant hyperthermia, susceptibility 1
Central core disease
Minicore myopathy
Multicore myopathy
Minicore myopathy with external ophthalmoplegia
Centronuclear myopathy (individuals with these conditions may also be at risk of malignant hyperthermia)
SCARF2 Van den Ende-Gupta syndrome
SDHA Paragangliomas 5
Gastrointestinal stromal tumors
Cardiomyopathy, dilated, 1GG
Leigh syndrome/Mitochondrial respiratory chain complex II deficiency
SHROOM4 Stocco dos Santos X-linked mental retardation syndrome
SLC37A4 Glycogen storage disease Ib
Glycogen storage disease Ic
Glycogen storage disease Id
SLC46A1 Folate malabsorption, hereditary
SMARCA2 Nicolaides-Baraitser syndrome
SPATA7 Leber congenital amaurosis 3
Retitinitis pigmentosa, juvenile, SPATA7-related
SPTB Spherocytosis, type 2
Ellipsocytosis, type 3
Anemia, neonatal hemolytic
SPTBN2 Spinocerebellar ataxia 5, autosomal dominant
Spinocerebellar ataxia 14, autosomal recessive
STUB1 Spinocerebellar ataxia, autosomal recessive 16
TBP Spinocerebellar ataxia 17
TMIE Deafness, autosomal recessive 6
TRIOBP Deafness, autosomal recessive 28
TSHZ1 Aural atresia, congenital
TSPYL1 Sudden infant death with dysgenesis of the testes syndrome
46, XY disorder of sex development
UNC93B1 Herpes simplex encephalitis, susceptibility to, 1
VEGFC Lymphedema, hereditary, ID
VPS11 Leukodystrophy, hypomyelinating 12
WDR73 Galloway-Mowat syndrome
WNK1 Pseudohypoaldosteronism, type IIC
Neuropathy, hereditary sensory and autonomic, type IIA
ZNF408 Exudative vitreoretinopathy 6
Retinitis pigmentosa 72
ZNF480 Schizophrenia

Genes at HGMD

Summary

Number of Variants: 21443
Number of Genes: 746

Export to: CSV
  • Page 1 of 215

AAK1
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 2 rs3832159,rs66931661
dbSNP Clinvar 		69741753 1956.77 CTGT C PASS 0/1 59 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.35583 0.35580 0.34251 None None None None None None AAK1|0.297965723|27.81%

AAMDC
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 11 rs60400274,rs397702235
dbSNP Clinvar 		77629132 1252.77 A AT PASS 0/1 121 None None None 0.72963 0.72960 None None None None None None AAMDC|0.466531332|17.33%,INTS4|0.13856273|44.61%

AC005609.1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 5 rs11321479
dbSNP Clinvar 		140242451 1444.77 GC G PASS 0/1 83 FRAME_SHIFT HIGH None 0.63079 0.63080 None None None None None None PCDHA1|0.053770874|61.55%,PCDHA2|0.022057729|73.14%,PCDHA3|0.065561586|58.47%,PCDHA4|0.052208094|62.01%,PCDHA5|0.043866789|64.55%,PCDHA6|0.050872533|62.4%,PCDHA7|0.028518768|70.18%,PCDHA8|0.015875262|76.54%,PCDHA9|0.018630148|74.91%,PCDHA10|0.087661567|53.69%

AC007952.5
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 17 rs765568574
dbSNP Clinvar 		18997159 177.77 TG... T PASS 0/1 67 FRAME_SHIFT+STOP_LOST HIGH None None None None None None None None

AC010536.1
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 16 rs34111279
dbSNP Clinvar 		87729334 3272.77 C CA PASS 0/1 303 FRAME_SHIFT HIGH None None None None None None None JPH3|0.231218042|33.27%

AC012123.1
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 18 rs200605696
dbSNP Clinvar 		30352057 4184.77 GC... G PASS 0/1 182 FRAME_SHIFT HIGH None None None None None None None KLHL14|0.473561671|17.04%

AC018755.1
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 19 rs3838908,rs398059818
dbSNP Clinvar 		52096033 3288.77 GA... G PASS 0/1 82 FRAME_SHIFT HIGH None 0.20747 0.20750 None None None None None None None

AC062017.1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 2 rs3215239
dbSNP Clinvar 		240323905 4912.77 T TG PASS 0/1 172 FRAME_SHIFT HIGH None 0.51817 0.51820 None None None None None None None

AC068620.1
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 4 rs59951040
dbSNP Clinvar 		57277065 81.94 TAA T PASS 1/1 5 FRAME_SHIFT HIGH None None None None None None None PPAT|0.443666776|18.5%

AC074212.3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 19 rs139434566
dbSNP Clinvar 		46265047 3493.77 A AT... PASS 0/1 157 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None None

AC090616.2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 17 . 30469470 590.77 CC... C PASS 0/1 31 GENE_FUSION_REVERESE HIGH None None None None None None None None

AC096644.1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 1 rs10553491,rs67066512
dbSNP Clinvar 		220603310 929.78 TGTGA T PASS 1/1 32 FRAME_SHIFT HIGH None None None None None None None None

AC104667.3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 2 rs146534321
dbSNP Clinvar 		238499863 1144.77 A AA... PASS 0/1 65 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.51637 0.51640 None None None None None None RAB17|0.004320407|86.57%

AC110771.1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 4 rs146592367,rs67422809
dbSNP Clinvar 		187112347 4701.77 C CGTT PASS 0/1 245 CODON_INSERTION MODERATE None None None None None None None None

ACIN1
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 14 rs3841035,rs57580458
dbSNP Clinvar 		23549878 1321.77 TTCC T PASS 0/1 85 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.10723 0.10720 None None None None None None ACIN1|0.717450786|8.04%
View lapatrada pol indel 14 rs3077646
dbSNP Clinvar 		23548783 2398.77 A AG... PASS 0/1 156 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.38778 0.38780 0.49976 None None None None None None ACIN1|0.717450786|8.04%

ACSL6
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 5 rs3043838
dbSNP Clinvar 		131324250 6189.77 C CTG PASS 0/1 304 None None None 0.51338 0.51340 0.37550 None None None None None None ACSL6|0.245327247|31.99%

ADAM29
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 4 . 175899001 11834.8 T TC... PASS 0/1 239 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None ADAM29|0.000578944|98.03%

ADAM33
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 20 rs146576636,rs17548837
dbSNP Clinvar 		3649632 1784.77 AT... A PASS 0/1 172 FRAME_SHIFT HIGH None 0.07049 0.07049 0.03882 None None None None None None ADAM33|0.021575059|73.4%

ADAMTS1
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 21 rs373460567
dbSNP Clinvar 		28215826 3572.77 C CACA PASS 1/1 80 None None None None None None None None None ADAMTS1|0.304173311|27.34%
View lapatrada pol indel 21 rs3838077,rs397841322
dbSNP Clinvar 		28215836 2404.77 GC G PASS 1/1 65 None None None 0.68890 0.68890 None None None None None None ADAMTS1|0.304173311|27.34%

ADAMTS19
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 5 rs761800632
dbSNP Clinvar 		128797329 2030.77 C CC... PASS 0/1 136 CODON_INSERTION MODERATE None None None None None None None ADAMTS19|0.08763198|53.7%

ADAMTS7
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 15 rs543268667
dbSNP Clinvar 		79058940 253.77 GCGC G PASS 0/1 9 CODON_DELETION MODERATE None 0.05072 0.05072 None None None None None None ADAMTS7|0.010836867|80.23%

ADAMTS8
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 11 rs10548872
dbSNP Clinvar 		130298117 2301.77 GGCA G PASS 0/1 64 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.07728 0.47700 0.51250 None None None None None None ADAMTS8|0.042125202|65.07%

ADAMTSL1
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 9 rs35525189,rs796576662
dbSNP Clinvar 		18826261 1821.89 GT G PASS 1/1 115 None None None None None None None None None ADAMTSL1|0.674544897|9.24%

ADCK5
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 8 rs148509143,rs563415390
dbSNP Clinvar 		145617534 2544.77 TG... T PASS 0/1 107 None None None 0.62700 0.62700 0.42097 None None None None None None ADCK5|0.009712798|81.05%

ADRA2B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 2 rs34667759,rs28365031,rs29000568
dbSNP Clinvar 		96780986 16328.8 C CT... PASS 1/1 306 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.24860 0.47060 0.29666 None None None None None None ADRA2B|0.088340463|53.59%

AFAP1L2
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 10 rs74928179
dbSNP Clinvar 		116085784 14123.8 C CCCG PASS 1/1 311 CODON_INSERTION MODERATE None None None None None None None AFAP1L2|0.092781823|52.66%

AGAP1
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 2 rs142341634
dbSNP Clinvar 		236761414 2788.77 C CCAGG PASS 0/1 142 None None None 0.14357 0.14360 None None None None None None AGAP1|0.457547319|17.79%

AHSA1
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 14 rs5809831
dbSNP Clinvar 		77935239 609.77 T TG PASS 1/1 17 None None None 0.47943 0.47940 None None None None None None AHSA1|0.497086001|15.98%

AK5
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 1 rs79671213
dbSNP Clinvar 		78024345 2751.77 C CTAT PASS 1/1 60 CODON_INSERTION MODERATE None 0.61961 0.61960 0.35982 None None None None None None AK5|0.166834889|40.71%

AK9
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 6 rs72331392,rs560850105
dbSNP Clinvar 		109850199 448.77 AAC A PASS 0/1 46 None None None 0.51038 0.51040 None None None None None None AK9|0.032678932|68.3%

AKAP12
Omim - GeneCards - NCBI
Options Individual Chr
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 6 rs3842128,rs113116275,rs34338625
dbSNP Clinvar 		151674116 1674.77 T TGAG PASS 0/1 88 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.70387 0.70390 0.22056 None None None None None None AKAP12|0.001631589|92.22%

AKAP9
Omim - GeneCards - NCBI
Options Individual Chr
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 7 rs10644111
dbSNP Clinvar 		91652178 747.77 A AAAC PASS 0/1 41 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.42472 0.42470 0.47907 None None None None None None AKAP9|0.267262044|30.07%

AL133373.1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 14 rs34650717
dbSNP Clinvar 		92040589 2031.77 TC T PASS 0/1 70 FRAME_SHIFT HIGH None 0.49900 0.49900 0.48349 None None None None None None None

AL445989.1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 13 rs757251234
dbSNP Clinvar 		64320959 2407.77 C CC... PASS 1/1 39 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None None
View lapatrada pol indel 13 rs755305102
dbSNP Clinvar 		64321054 826.77 A AG... PASS 0/1 71 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None None
View lapatrada pol indel 13 rs756609448
dbSNP Clinvar 		64321108 1591.77 AG... A PASS 0/1 142 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None None

ALDH3B1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 11 rs11436139,rs58238184
dbSNP Clinvar 		67795378 10137.8 G GC PASS 1/1 286 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.99980 0.99980 0.00424 None None None None None None ALDH3B1|0.033093329|68.12%
View lapatrada pol indel 11 rs58160034,rs397695802
dbSNP Clinvar 		67789293 11515.8 G GC PASS 1/1 309 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.00280 0.99720 0.00024 None None None None None None ALDH3B1|0.033093329|68.12%
View lapatrada pol indel 11 rs11433668,rs397777471
dbSNP Clinvar 		67786064 4041.77 A AC PASS 1/1 109 None None None 1.00000 1.00000 0.00224 None None None None None None ALDH3B1|0.033093329|68.12%

ALG1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 16 rs112683515
dbSNP Clinvar 		5122072 3820.77 G GGTCT PASS 0/1 213 None None None 0.58347 0.58350 0.48735 None None None None None None ALG1|0.0336465|67.9%

ALG9
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 11 rs10708475
dbSNP Clinvar 		111742145 4843.77 CG C PASS 1/1 121 FRAME_SHIFT HIGH None 1.00000 1.00000 0.00040 None None None None None None ALG9|0.352156163|23.94%

ALLC
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 2 rs66473381,rs759577715,rs796898978,rs201406139,rs34308920
dbSNP Clinvar 		3749151 3076.77 GGAA G PASS 0/1 164 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.41194 0.41190 0.49313 None None None None None None ALLC|0.091233568|52.99%

ALMS1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 2 rs587621330,rs34628045
dbSNP Clinvar 		73675227 4455.77 T TCTC PASS 0/1 126 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.60044 0.60040 0.44921 None None None None None None ALMS1|0.012791041|78.65%
View lapatrada pol indel 2 rs764804760,rs778948871,rs193922695
dbSNP Clinvar 		73613031 411.77 T TGGA PASS 0/1 20 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None ALMS1|0.012791041|78.65%

ALPK1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 4 rs150577225
dbSNP Clinvar 		113353522 4908.77 GTTC G PASS 0/1 263 CODON_DELETION MODERATE None 0.00040 0.03095 0.00695 None None None None None None ALPK1|0.013394495|78.25%

ALPK2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 18 . 56247117 2485.77 TG T PASS 0/1 203 FRAME_SHIFT HIGH None None None None None None None ALPK2|0.002935349|88.74%
View lapatrada pol indel 18 rs67925233
dbSNP Clinvar 		56204387 409.77 AC... A PASS 0/1 150 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.40196 0.40200 None None None None None None ALPK2|0.002935349|88.74%

ALYREF
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 17 rs768732986
dbSNP Clinvar 		79846216 10100.8 GC... G PASS 0/1 559 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.00112 None None None None None None ALYREF|0.296313591|27.94%

ANKRD31
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 5 rs10563854,rs796339850
dbSNP Clinvar 		74491715 4745.77 TTCA T PASS 1/1 107 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.58147 0.58150 0.49535 None None None None None None ANKRD31|0.011398689|79.69%

ANKRD36
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 2 rs746371426
dbSNP Clinvar 		97818260 829.77 GGC G PASS 0/1 81 FRAME_SHIFT HIGH None None None None None None None ANKRD36|0.001192347|94.46%
View lapatrada pol indel 2 rs772505240
dbSNP Clinvar 		97818264 807.77 G GTT PASS 0/1 80 FRAME_SHIFT HIGH None None None None None None None ANKRD36|0.001192347|94.46%
View lapatrada pol indel 2 . 97851078 378.77 A AG PASS 0/1 116 FRAME_SHIFT HIGH None None None None None None None ANKRD36|0.001192347|94.46%
View lapatrada pol indel 2 . 97851073 384.77 GC G PASS 0/1 116 FRAME_SHIFT HIGH None None None None None None None ANKRD36|0.001192347|94.46%
View lapatrada pol indel 2 rs141478865
dbSNP Clinvar 		97877468 1290.77 ATC A PASS 0/1 193 FRAME_SHIFT HIGH None 0.01058 0.01058 None None None None None None ANKRD36|0.001192347|94.46%

ANKRD36C
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 2 rs764442566
dbSNP Clinvar 		96616501 3387.77 C CAA PASS 0/1 134 FRAME_SHIFT HIGH None None None None None None None ANKRD36C|0.001406745|93.3%
View lapatrada pol indel 2 rs745741068
dbSNP Clinvar 		96592970 606.77 G GAT PASS 0/1 129 FRAME_SHIFT HIGH None None None None None None None ANKRD36C|0.001406745|93.3%
View lapatrada pol indel 2 rs147285461
dbSNP Clinvar 		96610395 1549.77 C CA PASS 0/1 129 FRAME_SHIFT HIGH None None None None None None None ANKRD36C|0.001406745|93.3%
View lapatrada pol indel 2 rs373114066
dbSNP Clinvar 		96616505 3087.77 AGC A PASS 0/1 127 FRAME_SHIFT HIGH None None None None None None None ANKRD36C|0.001406745|93.3%
View lapatrada pol indel 2 rs772059065
dbSNP Clinvar 		96592974 630.77 GTT G PASS 0/1 136 FRAME_SHIFT HIGH None None None None None None None ANKRD36C|0.001406745|93.3%

ANKRD40
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 17 rs138572332,rs750724196
dbSNP Clinvar 		48777220 1145.77 G GTCA PASS 0/1 109 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.04692 0.04692 None None None None None None ANKRD40|0.099454901|51.27%

ANP32E
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 1 rs68136184,rs56692627
dbSNP Clinvar 		150199039 1504.77 CT... C PASS 0/1 59 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.35064 0.35060 0.20257 None None None None None None ANP32E|0.463617374|17.49%

AOAH
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 7 rs59476355
dbSNP Clinvar 		36552729 6895.77 A AT PASS 1/1 219 FRAME_SHIFT HIGH None 0.99980 0.99980 None None None None None None AOAH|0.05743156|60.58%
View lapatrada pol indel 7 rs57543920
dbSNP Clinvar 		36552790 7374.77 G GT PASS 1/1 220 FRAME_SHIFT HIGH None 0.87740 0.87740 None None None None None None AOAH|0.05743156|60.58%

AP001468.1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 21 rs146297977
dbSNP Clinvar 		47612512 7211.77 C CTG PASS 0/1 201 FRAME_SHIFT HIGH None 0.72105 0.72100 None None None None None None LSS|0.346361251|24.39%

AP1S3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 2 rs59118867,rs397762329
dbSNP Clinvar 		224640803 1270.77 C CAA PASS 0/1 83 None None None 0.19409 0.19410 None None None None None None AP1S3|0.281602068|29.01%

APOL4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 22 rs5845253,rs3075364
dbSNP Clinvar 		36587845 4105.74 A ACT PASS 0/1 108 None None None 0.67572 0.67570 0.40732 None None None None None None APOL4|0.000586223|97.99%

AQP12B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 2 rs201917032
dbSNP Clinvar 		241621799 2800.77 GC G PASS 0/1 236 FRAME_SHIFT HIGH None 0.23203 0.23200 0.19662 None None None None None None AQP12B|0.003305104|88.08%

AR
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel X rs778920072
dbSNP Clinvar 		66765158 764.77 TGCA T,... PASS 1/2 24 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None AR|0.999436019|0.35%

ARFRP1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 20 rs367993153,rs386394225
dbSNP Clinvar 		62332638 7262.77 A AC PASS 0/1 246 None None None 0.73642 0.73640 0.16151 None None None None None None ARFRP1|0.101604996|50.84%

ARHGEF15
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 17 . 8218831 3947.77 AC A PASS 0/1 332 FRAME_SHIFT HIGH None None None None None None None ARHGEF15|0.03636471|66.99%

ARHGEF37
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 5 rs777034723
dbSNP Clinvar 		149006830 778.77 C CG PASS 0/1 91 None None None None None None None None None ARHGEF37|0.046932636|63.62%

ARHGEF5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 7 rs766185415
dbSNP Clinvar 		144059763 147.77 A AT... PASS 0/1 27 FRAME_SHIFT+STOP_GAINED HIGH None None None None None None None ARHGEF5|0.018074391|75.24%

ART5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 11 rs3062849
dbSNP Clinvar 		3661585 11604.8 A ATGG PASS 1/1 259 CODON_INSERTION MODERATE None 0.96745 0.96750 0.03526 None None None None None None ART5|0.101580058|50.85%

ASCC2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 22 rs10559800,rs146848976
dbSNP Clinvar 		30234192 2729.77 TGCC T,... PASS 1/2 72 None None None None None None None None None ASCC2|0.130819121|45.77%

ASPHD1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 16 rs140411458,rs35784618
dbSNP Clinvar 		29912802 4871.77 G GGGT PASS 0/1 273 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.20228 0.20230 0.35699 None None None None None None ASPHD1|0.262036934|30.55%

ASPN
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 9 rs878929025,rs397838876,rs557103556
dbSNP Clinvar 		95237024 1109.77 CTCA C PASS 0/1 35 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None CENPP|0.015429847|76.86%,ASPN|0.415784887|19.83%

ATF7IP2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 16 rs56252625,rs113642662,rs571414967
dbSNP Clinvar 		10524656 1295.77 GGAC G PASS 0/1 35 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.60324 0.60320 0.41109 None None None None None None ATF7IP2|0.022985481|72.74%

ATG3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 3 rs35560667,rs570214747,rs397767079
dbSNP Clinvar 		112253058 835.77 C CA PASS 1/1 36 None None None 0.58390 None None None None None None ATG3|0.504506892|15.59%

ATG9B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 7 rs11393607,rs77573754
dbSNP Clinvar 		150713902 1925.77 G GC PASS 1/1 54 FRAME_SHIFT HIGH None 1.00000 1.00000 0.00099 None None None None None None ATG9B|0.090467592|53.12%

ATN1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 12 . 7045891 2054.77 A AC... PASS 0/1 125 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None ATN1|0.702926343|8.41%
View lapatrada pol indel 12 rs781900874
dbSNP Clinvar 		7045885 1152.77 AC... A PASS 0/1 189 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None ATN1|0.702926343|8.41%

ATXN1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 6 rs757472452
dbSNP Clinvar 		16327900 926.77 C CTGA PASS 0/1 71 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None ATXN1|0.832563526|5.05%

ATXN2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 12 rs759304594
dbSNP Clinvar 		112036780 211.77 TG... T PASS 0/1 18 FRAME_SHIFT HIGH None None None None None None None ATXN2|0.872313714|4.16%
View lapatrada pol indel 12 rs757862555
dbSNP Clinvar 		112036778 211.77 GC G PASS 0/1 18 FRAME_SHIFT HIGH None None None None None None None ATXN2|0.872313714|4.16%
View lapatrada pol indel 12 rs10560189,rs67658094
dbSNP Clinvar 		112036753 92.77 GGCT G PASS 0/1 16 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.95108 0.95110 0.09190 None None None None None None ATXN2|0.872313714|4.16%

ATXN3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 14 rs760924707
dbSNP Clinvar 		92537379 1022.77 T TG... PASS 0/1 59 FRAME_SHIFT HIGH None None None None None None None ATXN3|0.681306976|9.03%
View lapatrada pol indel 14 rs775879957
dbSNP Clinvar 		92537378 1022.77 G GC PASS 0/1 60 FRAME_SHIFT HIGH None None None None None None None ATXN3|0.681306976|9.03%
View lapatrada pol indel 14 . 92537354 888.77 C CT... PASS 0/1 56 FRAME_SHIFT HIGH None None None None None None None ATXN3|0.681306976|9.03%
View lapatrada pol indel 14 rs763461489
dbSNP Clinvar 		92537353 890.77 C CG PASS 0/1 55 FRAME_SHIFT HIGH None None None None None None None ATXN3|0.681306976|9.03%

ATXN7
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 3 rs576518931,rs1060499845
dbSNP Clinvar 		63898360 344.77 G GG... PASS 0/1 26 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.02137 0.02137 None None None None None None ATXN7|0.45901663|17.72%

ATXN7L1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 7 rs150182467
dbSNP Clinvar 		105254801 305.77 AGAG A PASS 0/1 107 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None None ATXN7L1|0.537691769|14.3%

B3GNT6
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 11 rs11292200,rs796140348
dbSNP Clinvar 		76751603 21091.8 CT C PASS 1/1 482 FRAME_SHIFT HIGH None 1.00000 1.00000 0.00025 None None None None None None B3GNT6|0.006722766|83.81%
View lapatrada pol indel 11 rs11292198,rs796338514
dbSNP Clinvar 		76751541 16912.8 CT C PASS 1/1 459 FRAME_SHIFT HIGH None 1.00000 1.00000 None None None None None None B3GNT6|0.006722766|83.81%
View lapatrada pol indel 11 rs11292199
dbSNP Clinvar 		76751584 21698.8 CT C PASS 1/1 477 FRAME_SHIFT HIGH None 1.00000 1.00000 None None None None None None B3GNT6|0.006722766|83.81%

BAIAP2L2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 22 rs200930717
dbSNP Clinvar 		38483174 1989.77 A AC... PASS 0/1 90 CODON_INSERTION MODERATE None None None None None None None BAIAP2L2|0.045525826|64.05%

BCL6B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 17 rs146207245,rs72254884
dbSNP Clinvar 		6928019 3628.77 C CCAG PASS 0/1 124 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.66234 0.66230 None None None None None None BCL6B|0.213572706|35.16%

BCR
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 22 rs372013175
dbSNP Clinvar 		23653975 178.77 T TCCGG PASS 0/1 36 FRAME_SHIFT HIGH None None None None None None None BCR|0.805888971|5.65%

BHLHE22
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View lapatrada pol indel 8 rs564889045,rs34265378,rs745361527,rs71561231
dbSNP Clinvar 		65494020 1163.77 G GGCA PASS 0/1 73 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None None BHLHE22|0.316142463|26.34%
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