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Genes:
ABCC8, ACAT1, ACCS, ACCSL, ACER3, ACP2, ACY3, ADAMTS8, AGBL2, AIP, ALDH3B1, ALDH3B2, ALG9, ALKBH3, ALKBH8, ALX4, AMICA1, AMPD3, ANAPC15, ANGPTL5, ANKK1, ANKRD13D, ANKRD49, ANO1, ANO3, ANO5, ANO9, AP2A2, APIP, APLNR, APOA4, APOC3, ARAP1, ARCN1, ARFGAP2, ARHGAP1, ARHGAP32, ARHGEF12, ARHGEF17, ART1, ART5, ASCL3, ATG13, ATG2A, ATHL1, ATM, B3GNT6, B4GALNT4, BACE1, BAD, BBOX1, BCO2, BDNF, BEST1, BRMS1, BSCL2, BTG4, C11orf16, C11orf21, C11orf24, C11orf35, C11orf42, C11orf45, C11orf48, C11orf49, C11orf52, C11orf68, C11orf82, C11orf96, C1QTNF5, C2CD3, CABP2, CALCA, CARD16, CARNS1, CARS, CASP12, CASP4, CASP5, CAT, CATSPER1, CCDC179, CCDC34, CCDC67, CCDC73, CCDC81, CCDC82, CCDC86, CCDC88B, CCDC90B, CCKBR, CCND1, CD151, CD3G, CD44, CD6, CD82, CDC42BPG, CDHR5, CDON, CEP164, CFL1, CHEK1, CHID1, CHORDC1, CHRM1, CHRNA10, CHST1, CKAP5, CNGA4, CNTN5, COLCA2, COPB1, CORO1B, CPSF7, CREB3L1, CREBZF, CRTAM, CTNND1, CTR9, CTSC, CTSD, CTSW, CTTN, CUL5, CWF19L2, CYB5R2, DAGLA, DAK, DCDC1, DCPS, DDB2, DDI1, DDX25, DEFB108B, DGAT2, DGKZ, DHCR7, DKK3, DLAT, DNAJB13, DNHD1, DRD2, DSCAML1, DTX4, DYNC2H1, EEF1G, EFCAB4A, EFEMP2, EHBP1L1, EHD1, EI24, EIF3F, EIF4G2, ELF5, EML3, EPS8L2, ESRRA, EXPH5, FADS3, FAM160A2, FAM168A, FAM180B, FAM181B, FAM86C1, FAT3, FCHSD2, FDXACB1, FKBP2, FLRT1, FOLH1, FOSL1, FSHB, GAL3ST3, GALNT18, GAS2, GDPD4, GDPD5, GIF, GLB1L2, GLB1L3, GLYAT, GRIK4, GRM5, GSTP1, GYLTL1B, HBB, HEPHL1, HINFP, HPS5, HSD17B12, HSPA8, HSPB2, HTATIP2, HTR3B, HYLS1, HYOU1, IFITM1, IFITM2, IFITM3, IFITM5, IFT46, IGHMBP2, IGSF22, IGSF9B, IL10RA, ILK, INCENP, INS, INSC, IPO7, IRF7, KCNC1, KCNJ11, KCNJ5, KCNK4, KCTD21, KDM2A, KDM4E, KIAA1377, KIAA1549L, KIAA1731, KIRREL3, KLHL35, KRTAP5-10, KRTAP5-3, KRTAP5-5, KRTAP5-6, KRTAP5-8, LAYN, LDHA, LDHAL6A, LDHC, LDLRAD3, LGR4, LIPT2, LMO1, LMO2, LPXN, LRP4, LRP5, LRRC56, LSP1, MACROD1, MADD, MAML2, MAP3K11, MAP6, MCAM, MDK, ME3, MED17, MEN1, METTL12, METTL15, MFRP, MICAL2, MICALCL, MMP1, MMP10, MMP20, MMP27, MMP3, MMP7, MMP8, MOB2, MOGAT2, MPZL3, MRGPRD, MRGPRE, MRGPRF, MRGPRX1, MRGPRX3, MRGPRX4, MRPL23, MRVI1, MS4A10, MS4A12, MS4A13, MS4A14, MS4A15, MS4A3, MS4A4A, MS4A6A, MS4A7, MTCH2, MUC15, MUC2, MUC5B, MUC6, MUS81, MYBPC3, MYO7A, MYRF, NAA40, NAALAD2, NADSYN1, NARS2, NAT10, NAV2, NCAM1, NELL1, NEU3, NFRKB, NLRP14, NLRP6, NLRX1, NOX4, NPAS4, NPAT, NRXN2, NTM, NUCB2, NUDT22, NUDT8, NUMA1, NUP160, NUP98, NXF1, NXPE1, NXPE2, NXPE4, OAF, ODF3, OMP, OR10A2, OR10A6, OR10AG1, OR10G4, OR10G7, OR10G8, OR10G9, OR10Q1, OR10V1, OR10W1, OR1S1, OR1S2, OR2D2, OR2D3, OR4A16, OR4A5, OR4B1, OR4C11, OR4C12, OR4C13, OR4C15, OR4C16, OR4C3, OR4C46, OR4D6, OR4P4, OR4S1, OR4S2, OR4X1, OR51A2, OR51A4, OR51A7, OR51B2, OR51D1, OR51E1, OR51E2, OR51F1, OR51F2, OR51G1, OR51I1, OR51I2, OR51L1, OR51Q1, OR51S1, OR51V1, OR52A1, OR52B4, OR52B6, OR52D1, OR52E2, OR52E4, OR52E6, OR52E8, OR52H1, OR52I2, OR52J3, OR52K1, OR52K2, OR52L1, OR52M1, OR52N1, OR52N2, OR52N4, OR52N5, OR52R1, OR52W1, OR56A1, OR56A3, OR5A1, OR5AK2, OR5AR1, OR5AS1, OR5B12, OR5B17, OR5B2, OR5B3, OR5D13, OR5D14, OR5D16, OR5D18, OR5F1, OR5M1, OR5M10, OR5M11, OR5M3, OR5P3, OR5R1, OR5T1, OR5T2, OR5W2, OR6A2, OR6M1, OR6Q1, OR8A1, OR8B2, OR8B3, OR8D4, OR8G1, OR8G5, OR8H1, OR8H2, OR8H3, OR8J1, OR8K1, OR8K3, OR8U1, OR9G1, OR9G4, OR9Q1, OR9Q2, OSBP, OSBPL5, OVCH2, P2RX3, P2RY2, PAAF1, PACSIN3, PAFAH1B2, PAMR1, PANX1, PATE1, PATE4, PCNXL3, PCSK7, PDE2A, PDE3B, PDGFD, PDHX, PDZD3, PEX16, PGM2L1, PGR, PHLDB1, PHRF1, PICALM, PIK3C2A, PITPNM1, PIWIL4, PKP3, PLCB3, PLEKHA7, PLEKHB1, PLET1, PNPLA2, POLD3, POLR2L, POU2F3, PPFIA1, PPFIBP2, PPP1R32, PRDM10, PRDX5, PRG2, PRG3, PRKCDBP, PRMT3, PRPF19, PRR5L, PRRG4, PSMD13, PTGDR2, PTH, PTPN5, PTPRCAP, PTPRJ, PUS3, PVRL1, RAB38, RAB3IL1, RAG1, RAPSN, RARRES3, RBMXL2, RCOR2, RHOD, RIC3, RIC8A, RIN1, RNF121, RNF141, RNF26, RNH1, ROM1, RPS6KA4, RPS6KB2, RPUSD4, RRM1, RRP8, RTN3, SAA1, SAA2, SAA4, SART1, SCGB1C1, SCGB1D2, SCN3B, SCUBE2, SERGEF, SERPINH1, SIAE, SIGIRR, SIPA1, SIRT3, SLC15A3, SLC22A10, SLC22A12, SLC22A18, SLC22A18AS, SLC22A24, SLC22A25, SLC22A8, SLC25A45, SLC36A4, SLC37A2, SLC39A13, SLC5A12, SLC6A5, SMCO4, SMPD1, SMTNL1, SNX15, SNX19, SNX32, SORL1, SPATA19, SPTBN2, SPTY2D1, SRSF8, SSH3, SSRP1, ST14, ST5, STIM1, STK33, STT3A, SUV420H1, SWAP70, SYT8, SYT9, SYTL2, TAGLN, TBC1D10C, TBX10, TCIRG1, TEAD1, TECTA, TH, TM7SF2, TMEM109, TMEM132A, TMEM135, TMEM136, TMEM216, TMEM223, TMEM225, TMEM25, TMEM262, TMEM45B, TMEM9B, TMPRSS13, TMPRSS4, TMPRSS5, TNKS1BP1, TNNI2, TOLLIP, TP53AIP1, TPCN2, TREH, TRIM22, TRIM29, TRIM49, TRIM5, TRIM51, TRIM6, TRIM6-TRIM34, TRIM66, TRPC6, TRPM5, TSGA10IP, TSKU, TSPAN32, TSPAN4, TSSC4, TTC9C, UBASH3B, UBQLN3, UBQLNL, UCP3, UNC93B1, USH1C, USP2, USP28, USP35, USP47, VPS11, VPS26B, VWA5A, WNT11, ZBTB3, ZC3H12C, ZDHHC13, ZDHHC5, ZFP91, ZNF143, ZNF195, ZNF202, ZNF214, ZNF215, ZNHIT2, ZP1,

Genes at Omim

ABCC8, ACAT1, ACER3, ACP2, AIP, ALG9, ALX4, AMPD3, ANO3, ANO5, APOC3, ARCN1, ATM, BEST1, BSCL2, C1QTNF5, C2CD3, CABP2, CASP12, CAT, CATSPER1, CCND1, CD151, CD3G, CD44, CDON, CEP164, CREB3L1, CTNND1, CTSC, CTSD, DCPS, DDB2, DHCR7, DLAT, DNAJB13, DYNC2H1, EFEMP2, EIF3F, EPS8L2, EXPH5, FSHB, GIF, HBB, HPS5, HYLS1, HYOU1, IFITM3, IFITM5, IGHMBP2, IL10RA, INS, IRF7, KCNC1, KCNJ11, KCNJ5, LDHA, LGR4, LIPT2, LMO1, LMO2, LRP4, LRP5, LRRC56, MAML2, MED17, MEN1, MFRP, MMP1, MMP20, MMP3, MUC5B, MYBPC3, MYO7A, MYRF, NARS2, NUMA1, NUP160, PDHX, PEX16, PGR, PICALM, PNPLA2, PTH, PTPRJ, PUS3, RAG1, RAPSN, ROM1, SCN3B, SERPINH1, SIAE, SLC22A12, SLC39A13, SLC6A5, SMPD1, SPTBN2, ST14, STIM1, STT3A, TCIRG1, TEAD1, TECTA, TH, TMEM216, TNNI2, TPCN2, TREH, TRPC6, UCP3, UNC93B1, USH1C, VPS11, ZP1,
ABCC8 Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3)
Hypoglycemia of infancy, leucine-sensitive, 240800 (3)
Diabetes mellitus, noninsulin-dependent, 125853 (3)
Diabetes mellitus, permanent neonatal, 606176 (3)
Diabetes mellitus, transient neonatal 2, 610374 (3)
ACAT1 Alpha-methylacetoacetic aciduria, 203750 (3)
ACER3 ?Leukodystrophy, progressive, early childhood-onset, 617762 (3)
ACP2 ?Lysosomal acid phosphatase deficiency, 200950 (1)
AIP Pituitary adenoma 1, multiple types, 102200 (3)
Pituitary adenoma predisposition, 102200 (3)
ALG9 Gillessen-Kaesbach-Nishimura syndrome, 263210 (3)
Congenital disorder of glycosylation, type Il, 608776 (3)
ALX4 Frontonasal dysplasia 2, 613451 (3)
Parietal foramina 2, 609597 (3)
{Craniosynostosis 5, susceptibility to}, 615529 (3)
AMPD3 [AMP deaminase deficiency, erythrocytic], 612874 (3)
ANO3 Dystonia 24, 615034 (3)
ANO5 Gnathodiaphyseal dysplasia, 166260 (3)
Miyoshi muscular dystrophy 3, 613319 (3)
Muscular dystrophy, limb-girdle, autosomal recessive 12, 611307 (3)
APOC3 Apolipoprotein C-III deficiency, 614028 (3)
ARCN1 Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, 617164 (3)
ATM Ataxia-telangiectasia, 208900 (3)
Lymphoma, B-cell non-Hodgkin, somatic (3)
Lymphoma, mantle cell, somatic (3)
T-cell prolymphocytic leukemia, somatic (3)
{Breast cancer, susceptibility to}, 114480 (3)
BEST1 Bestrophinopathy, autosomal recessive, 611809 (3)
Macular dystrophy, vitelliform, 2, 153700 (3)
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 193220 (3)
Retinitis pigmentosa, concentric, 613194 (3)
Retinitis pigmentosa-50, 613194 (3)
Vitreoretinochoroidopathy, 193220 (3)
BSCL2 Lipodystrophy, congenital generalized, type 2, 269700 (3)
Encephalopathy, progressive, with or without lipodystrophy, 615924 (3)
Neuropathy, distal hereditary motor, type VA, 600794 (3)
Silver spastic paraplegia syndrome, 270685 (3)
C1QTNF5 Retinal degeneration, late-onset, autosomal dominant, 605670 (3)
C2CD3 ?Orofaciodigital syndrome XIV, 615948 (3)
CABP2 Deafness, autosomal recessive 93, 614899 (3)
CASP12 {Sepsis, susceptibility to} (3)
CAT Acatalasemia, 614097 (3)
CATSPER1 Spermatogenic failure 7, 612997 (3)
CCND1 {Multiple myeloma, susceptibility to}, 254500 (3)
{von Hippel-Lindau syndrome, modifier of}, 193300 (3)
{Colorectal cancer, susceptibility to}, 114500 (3)
CD151 Nephropathy with pretibial epidermolysis bullosa and deafness, 609057 (3)
[Blood group, Raph], 179620 (3)
CD3G Immunodeficiency 17, CD3 gamma deficient, 615607 (3)
CD44 [Blood group, Indian system], 609027 (3)
CDON Holoprosencephaly 11, 614226 (3)
CEP164 Nephronophthisis 15, 614845 (3)
CREB3L1 Osteogenesis imperfecta, type XVI, 616229 (3)
CTNND1 Blepharocheilodontic syndrome 2, 617681 (3)
CTSC Haim-Munk syndrome, 245010 (3)
Papillon-Lefevre syndrome, 245000 (3)
Periodontitis 1, juvenile, 170650 (3)
CTSD Ceroid lipofuscinosis, neuronal, 10, 610127 (3)
DCPS Al-Raqad syndrome, 616459 (3)
DDB2 Xeroderma pigmentosum, group E, DDB-negative subtype, 278740 (3)
DHCR7 Smith-Lemli-Opitz syndrome, 270400 (3)
DLAT Pyruvate dehydrogenase E2 deficiency, 245348 (3)
DNAJB13 Ciliary dyskinesia, primary, 34, 617091 (3)
DYNC2H1 Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 (3)
EFEMP2 Cutis laxa, autosomal recessive, type IB, 614437 (3)
EIF3F Mental retardation, autosomal recessive 67, 618295 (3)
EPS8L2 Deafness autosomal recessive 106, 617637 (3)
EXPH5 Epidermolysis bullosa, nonspecific, autosomal recessive, 615028 (3)
FSHB Hypogonadotropic hypogonadism 24 without anosmia, 229070 (3)
GIF Intrinsic factor deficiency, 261000 (3)
HBB Heinz body anemia, 140700 (3)
Hereditary persistence of fetal hemoglobin, 141749 (3)
{Malaria, resistance to}, 611162 (3)
Delta-beta thalassemia, 141749 (3)
Erythrocytosis 6, 617980 (3)
Methmoglobinemia, beta type, 617971 (3)
Sickle cell anemia, 603903 (3)
Thalassemia, beta, 613985 (3)
Thalassemia-beta, dominant inclusion-body, 603902 (3)
HPS5 Hermansky-Pudlak syndrome 5, 614074 (3)
HYLS1 Hydrolethalus syndrome, 236680 (3)
HYOU1 ?Immunodeficiency 59 and hypoglycemia, 233600 (3)
IFITM3 {Influenza, severe, susceptibility to}, 614680 (3)
IFITM5 Osteogenesis imperfecta, type V, 610967 (3)
IGHMBP2 Charcot-Marie-Tooth disease, axonal, type 2S, 616155 (3)
Neuronopathy, distal hereditary motor, type VI, 604320 (3)
IL10RA Inflammatory bowel disease 28, early onset, autosomal recessive, 613148 (3)
INS Hyperproinsulinemia, 616214 (3)
Diabetes mellitus, insulin-dependent, 2, 125852 (3)
Diabetes mellitus, permanent neonatal, 606176 (3)
Maturity-onset diabetes of the young, type 10, 613370 (3)
IRF7 ?Immunodeficiency 39, 616345 (3)
KCNC1 Epilepsy, progressive myoclonic 7, 616187 (3)
KCNJ11 Hyperinsulinemic hypoglycemia, familial, 2, 601820 (3)
Diabetes mellitus, transient neonatal, 3, 610582 (3)
Diabetes, permanent neonatal, with or without neurologic features, 606176 (3)
Maturity-onset diabetes of the young, type 13, 616329 (3)
{Diabetes mellitus, type 2, susceptibility to}, 125853 (3)
KCNJ5 Hyperaldosteronism, familial, type III, 613677 (3)
Long QT syndrome 13, 613485 (3)
LDHA Glycogen storage disease XI, 612933 (3)
LGR4 {Bone mineral density, low, susceptibility to}, 615311 (3)
LIPT2 Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, 617668 (3)
LMO1 Leukemia, T-cell acute lymphoblastic (2)
LMO2 Leukemia, acute T-cell (2)
LRP4 Cenani-Lenz syndactyly syndrome, 212780 (3)
?Myasthenic syndrome, congenital, 17, 616304 (3)
Sclerosteosis 2, 614305 (3)
LRP5 Hyperostosis, endosteal, 144750 (3)
{Osteoporosis}, 166710 (3)
Exudative vitreoretinopathy 4, 601813 (3)
Osteopetrosis, autosomal dominant 1, 607634 (3)
Osteoporosis-pseudoglioma syndrome, 259770 (3)
Osteosclerosis, 144750 (3)
Polycystic liver disease 4 with or without kidney cysts, 617875 (3)
[Bone mineral density variability 1], 601884 (3)
van Buchem disease, type 2, 607636 (3)
LRRC56 Ciliary dyskinesia, primary, 39, 618254 (3)
MAML2 Mucoepidermoid salivary gland carcinoma (3)
MED17 Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 (3)
MEN1 Adrenal adenoma, somatic (3)
Angiofibroma, somatic (3)
Carcinoid tumor of lung (3)
Lipoma, somatic (3)
Multiple endocrine neoplasia 1, 131100 (3)
Parathyroid adenoma, somatic (3)
MFRP Microphthalmia, isolated 5, 611040 (3)
Nanophthalmos 2, 609549 (3)
MMP1 COPD, rate of decline of lung function in, 606963 (3)
{Epidermolysis bullosa dystrophica, autosomal recessive, modifier of}, 226600 (3)
MMP20 Amelogenesis imperfecta, type IIA2, 612529 (3)
MMP3 {Coronary heart disease, susceptibility to, 6}, 614466 (3)
MUC5B {Pulmonary fibrosis, idiopathic, susceptibility to}, 178500 (3)
MYBPC3 Cardiomyopathy, dilated, 1MM, 615396 (3)
Cardiomyopathy, hypertrophic, 4, 115197 (3)
Left ventricular noncompaction 10, 615396 (3)
MYO7A Deafness, autosomal dominant 11, 601317 (3)
Deafness, autosomal recessive 2, 600060 (3)
Usher syndrome, type 1B, 276900 (3)
MYRF Cardiac-urogenital syndrome, 618280 (3)
Encephalitis/encephalopathy, mild, with reversible myelin vacuolization, 618113 (3)
NARS2 Combined oxidative phosphorylation deficiency 24, 616239 (3)
NUMA1 Leukemia, acute promyelocytic, somatic, 612376 (3)
NUP160 ?Nephrotic syndrome, type 19, 618178 (3)
PDHX Lacticacidemia due to PDX1 deficiency, 245349 (3)
PEX16 Peroxisome biogenesis disorder 8A (Zellweger), 614876 (3)
Peroxisome biogenesis disorder 8B, 614877 (3)
PGR ?Progesterone resistance, 264080 (2)
PICALM Leukemia, acute myeloid, somatic, 601626 (3)
PNPLA2 Neutral lipid storage disease with myopathy, 610717 (3)
PTH Hypoparathyroidism, autosomal dominant, 146200 (3)
Hypoparathyroidism, autosomal recessive, 146200 (3)
PTPRJ Colon cancer, somatic, 114500 (3)
PUS3 Mental retardation, autosomal recessive 55, 617051 (3)
RAG1 Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity, 609889 (3)
Combined cellular and humoral immune defects with granulomas, 233650 (3)
Omenn syndrome, 603554 (3)
Severe combined immunodeficiency, B cell-negative, 601457 (3)
RAPSN Fetal akinesia deformation sequence, 208150 (3)
Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326 (3)
ROM1 Retinitis pigmentosa 7, digenic form, 608133 (3)
SCN3B Atrial fibrillation, familial, 16, 613120 (3)
Brugada syndrome 7, 613120 (3)
SERPINH1 {Preterm premature rupture of the membranes, susceptibility to}, 610504 (3)
Osteogenesis imperfecta, type X, 613848 (3)
SIAE {Autoimmune disease, susceptibility to, 6}, 613551 (3)
SLC22A12 Hypouricemia, renal, 220150 (3)
SLC39A13 Ehlers-Danlos syndrome, spondylodysplastic type, 3, 612350 (3)
SLC6A5 Hyperekplexia 3, 614618 (3)
SMPD1 Niemann-Pick disease, type A, 257200 (3)
Niemann-Pick disease, type B, 607616 (3)
SPTBN2 Spinocerebellar ataxia 5, 600224 (3)
Spinocerebellar ataxia, autosomal recessive 14, 615386 (3)
ST14 Ichthyosis, congenital, autosomal recessive 11, 602400 (3)
STIM1 Immunodeficiency 10, 612783 (3)
Myopathy, tubular aggregate, 1 160565 (3)
Stormorken syndrome, 185070 (3)
STT3A ?Congenital disorder of glycosylation, type Iw, 615596 (3)
TCIRG1 Osteopetrosis, autosomal recessive 1, 259700 (3)
TEAD1 Sveinsson chorioretinal atrophy, 108985 (3)
TECTA Deafness, autosomal dominant 8/12, 601543 (3)
Deafness, autosomal recessive 21, 603629 (3)
TH Segawa syndrome, recessive, 605407 (3)
TMEM216 Joubert syndrome 2, 608091 (3)
Meckel syndrome 2, 603194 (3)
TNNI2 Arthrogryposis multiplex congenita, distal, type 2B, 601680 (3)
TPCN2 [Skin/hair/eye pigmentation 10, blond/brown hair], 612267 (3)
TREH Trehalase deficiency, 612119 (3)
TRPC6 Glomerulosclerosis, focal segmental, 2, 603965 (3)
UCP3 {Obesity, severe, and type II diabetes}, 601665 (3)
UNC93B1 {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, 610551 (3)
USH1C Deafness, autosomal recessive 18A, 602092 (3)
Usher syndrome, type 1C, 276904 (3)
VPS11 Leukodystrophy, hypomyelinating, 12, 616683 (3)
ZP1 Oocyte maturation defect 1, 615774 (3)

Genes at Clinical Genomics Database

ABCC8, ACAT1, AIP, ALG9, ALX4, AMPD3, ANO3, ANO5, APOC3, ATM, BDNF, BEST1, BSCL2, C1QTNF5, C2CD3, CABP2, CAT, CD151, CD3G, CD44, CDON, CEP164, CREB3L1, CTSC, CTSD, DCPS, DDB2, DHCR7, DLAT, DRD2, DYNC2H1, EFEMP2, EXPH5, FSHB, GIF, GRIK4, HBB, HPS5, HYLS1, IFITM5, IGHMBP2, IL10RA, INS, IRF7, KCNC1, KCNJ11, KCNJ5, KIRREL3, LDHA, LRP4, LRP5, MED17, MEN1, MFRP, MMP20, MYBPC3, MYO7A, NARS2, NPAT, PDHX, PEX16, PNPLA2, PTH, RAG1, RAPSN, ROM1, SCN3B, SERPINH1, SLC22A12, SLC39A13, SLC6A5, SMPD1, SPTBN2, ST14, STIM1, STT3A, TCIRG1, TEAD1, TECTA, TH, TMEM216, TNNI2, TPCN2, TRPC6, UNC93B1, USH1C, VPS11, ZP1,
ABCC8 Diabetes mellitus, transient neonatal, 2
Diabetes, permanent neonatal
Hyperinsulinemic hypoglycemia, familial, 1
Hypoglycemia, leucine-induced
ACAT1 Alpha-methylacetoacetic aciduria
AIP Pituitary adenoma, familial isolated
ALG9 Congenital disorder of glycosylation, type Il
ALX4 Parietal foramina 2
Frontonasal dysplasia 2
AMPD3 Erythrocytic AMP deaminase deficiency
ANO3 Craniocervical dystonia, autosomal dominant (Dystonia 24)
ANO5 Gnathodiaphyseal dysplasia
APOC3 Apolipoprotein C-III deficiency
ATM Breast cancer, susceptibility to
Ataxia-Telangiectasia
BDNF Central hypoventilation syndrome, congenital
BEST1 Vitreoretinochoroidopathy
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma
BSCL2 Lipodystrophy, congenital generalized, type 2
Encephalopathy, progressive, with or without lipodystrophy
C1QTNF5 Late-onset retinal degeneration
C2CD3 Orofaciodigital syndrome XIV
CABP2 Deafness, autosomal recessive 93
CAT Acatalasemia
CD151 Raph blood group
CD3G Immunodeficiency 17
CD44 Blood group, Indian
CDON Holoprosencephaly 11
CEP164 Nephronophthisis 15
CREB3L1 Osteogenesis imperfecta, type XVI
CTSC Haim-Munk syndrome
Papillon-Lefevre syndrome
Periodontitis 1, juvenile
CTSD Ceroid lipofuscinosis, neuronal, 10
DCPS Al-Raqad syndrome
DDB2 Xeroderma pigmentosum, group E
DHCR7 Smith-Lemli-Opitz syndrome
DLAT Pyruvate dehydrogenase E2 deficiency
DRD2 Myoclonic dystonia
DYNC2H1 Short-rib thoracic dysplasia 3 with or without polydactyly
EFEMP2 Cutis laxa, autosomal recessive type IB
EXPH5 Epidermolysis bullosa, nonspecific, autosomal recessive
FSHB Hypogonadotropic hypogonadism 24 without anosmia
GIF Intrinsic factor deficiency
GRIK4 Response to antidepressant treatment with citalopram
HBB Beta-thalassemia
Sickle cell disease
Thalassemia-beta, dominant inclusion body
Other Thalassemias/Hemoglobinopathies
HPS5 Hermansky-Pudlak syndrome 5
HYLS1 Hydrolethalus syndrome
IFITM5 Osteogenesis imperfecta, type V
IGHMBP2 Spinal muscular atrophy, distal, autosomal recessive, 1
Charcot-Marie-Tooth disease, axonal, type 2S
IL10RA Inflammatory bowel disease 28, autosomal recessive
INS Diabetes mellitus, permanent neonatal
IRF7 Immunodeficiency 39
KCNC1 Epilepsy, progressive myoclonic 7
KCNJ11 Hyperinsulinemic hypoglycemia, familial, 2
Diabetes mellitus, transient neonatal, 3
Diabetes, permanent neonatal
Diabetes, permanent neonatal, with Neurologic features
KCNJ5 Long QT syndrome 13
Hyperaldosteronism, familial, type III
KIRREL3 Mental retardation, autosomal dominant 4
LDHA Glycogen storage disease XI
LRP4 Cenani-Lenz syndactyly syndrome
Myasthenic syndrome, congenital 17
Sclerosteosis 2
LRP5 van Buchem disease, type 2
Osteopetrosis, autosomal dominant 1
Osteosclerosis
Hyperostosis, endosteal
Exudative vitreoretinopathy 4
Osteoporosis-pseudoglioma syndrome
MED17 Microcephaly, postnatal progressive, with seizures and brain atrophy
MEN1 Multiple endocrine neoplasia type I
Hyperparathyroidism, familial primary
MFRP Microphthalmia, isolated 5
Nanophthalmos 2
Retinitis pigmentosa, autosomal recessive
MMP20 Amelogenesis imperfecta, hypomaturation type, IIA2
MYBPC3 Cardiomyopathy, familial hypertrophic, 4
Cardiomyopathy, dilated, 1MM
Left ventricular noncompaction 10
MYO7A Deafness, autosomal recessive 2
Usher syndrome, type 1B
NARS2 Combined oxidative phosphorylation deficiency 24
NPAT Nodular lymphocyte predominant Hodgkin lymphoma, familial
PDHX Pyruvate dehydrogenase E3-binding protein deficiency
PEX16 Peroxisome biogenesis factor disorder 16
PNPLA2 Neutral lipid storage disease with myopathy
PTH Hypoparathyroidism, familial isolated
RAG1 T cell-negative, B cell-negative, natural killer cell-positive severe combined immunodeficiency
Omenn syndrome
Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity
Combined cellular and humoral immune defects with granulomas
RAPSN Myasthenic syndrome, congenital 11, associated with acetylcholine receptor deficiency
ROM1 Retinitis pigmentosa 7, digenic
SCN3B Brugada syndrome 7
Atrial fibrillation, familial 16
SERPINH1 Osteogenesis imperfecta, type X
SLC22A12 Hypouricemia, renal 1
SLC39A13 Spondylocheirodysplasia, Ehlers-Danlos syndrome-like
SLC6A5 Hyperekplexia 3
SMPD1 Niemann-Pick disease, type A
Niemann-Pick disease, type B
SPTBN2 Spinocerebellar ataxia 5, autosomal dominant
Spinocerebellar ataxia 14, autosomal recessive
ST14 Ichthyosis, congenital, autosomal recessive 11
STIM1 Stormorken syndrome
Immunodeficiency 10
STT3A Congenital disorder of glycosylation, type Iw
TCIRG1 Osteopetrosis, autosomal recessive 1
TEAD1 Sveinsson choreoretinal atrophy
TECTA Deafness, autosomal recessive 21
Deafness, autosomal dominant 8/12
TH Segawa syndrome, autosomal recessive
TMEM216 Joubert syndrome 2
Meckel syndrome 2
TNNI2 Arthrogryposis multiplex congenita, distal, type 2B
TPCN2 Skin/hair/eye pigmentation, variation in, 10
TRPC6 Focal segmental glomerulosclerosis 2
UNC93B1 Herpes simplex encephalitis, susceptibility to, 1
USH1C Usher syndrome, type IC
Deafness, autosomal recessive 18A
VPS11 Leukodystrophy, hypomyelinating 12
ZP1 Oocyte maturation defect 1

Genes at HGMD

Summary

Number of Variants: 2535
Number of Genes: 635

Export to: CSV

ABCC8

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 sp16_multisample SP16_819 11 rs1799857
dbSNP Clinvar
17452492 508.28 G A PASS 0/1 300 SYNONYMOUS_CODING LOW None 0.42991 0.42990 0.45873 None None None None None None ABCC8|0.967482639|1.79%
View sp16_multisample SP16_819 11 rs757110
dbSNP Clinvar
17418477 217.6 C A PASS 0/1 135 NON_SYNONYMOUS_CODING MODERATE None 0.72644 0.72640 0.26144 0.63 0.00 None None None None None None ABCC8|0.967482639|1.79%
View sp16_multisample SP16_819 11 rs1799859
dbSNP Clinvar
17419279 298.56 C T PASS 0/1 127 SYNONYMOUS_CODING LOW None 0.39097 0.39100 0.40967 None None None None None None ABCC8|0.967482639|1.79%
View sp16_multisample SP16_819 11 rs1048099
dbSNP Clinvar
17496516 864.17 A G PASS 0/1 142 SYNONYMOUS_CODING LOW None 0.43930 0.43930 0.47682 None None None None None None ABCC8|0.967482639|1.79%

ACAT1

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 sp16_multisample SP16_819 11 rs3741056
dbSNP Clinvar
107992346 259.04 G C PASS 1/1 41 NON_SYNONYMOUS_CODING MODERATE None 0.33187 0.33190 0.20971 0.02 0.14 None None None None None None ACAT1|0.138678583|44.58%

ACCS

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 sp16_multisample SP16_819 11 rs3107275
dbSNP Clinvar
44104981 129.06 C T PASS 0/1 45 NON_SYNONYMOUS_CODING MODERATE None 0.40375 0.40380 0.41512 0.23 0.10 None None None None None None ACCS|0.034927707|67.49%
View sp16_multisample SP16_819 11 rs33952257
dbSNP Clinvar
44089352 391.09 G A PASS 0/1 203 NON_SYNONYMOUS_CODING MODERATE None 0.26737 0.26740 0.24174 0.25 0.00 None None None None None None ACCS|0.034927707|67.49%

ACCSL

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 sp16_multisample SP16_819 11 rs2074051
dbSNP Clinvar
44080210 259.53 T C PASS 1/1 51 NON_SYNONYMOUS_CODING MODERATE None 0.79433 0.79430 0.20556 1.00 0.00 None None None None None None ACCSL|0.002111959|90.7%

ACER3

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 sp16_multisample SP16_819 11 rs4479014
dbSNP Clinvar
76637680 658.39 G A PASS 0/1 118 SYNONYMOUS_CODING LOW None 0.50379 0.50380 0.41728 None None None None None None ACER3|0.282744715|28.9%
View sp16_multisample SP16_819 11 rs3740767
dbSNP Clinvar
76701606 725.93 G A PASS 1/1 93 SYNONYMOUS_CODING LOW None 0.53295 0.53290 0.40072 None None None None None None ACER3|0.282744715|28.9%
View sp16_multisample SP16_819 11 rs4379869
dbSNP Clinvar
76637651 663.34 G A PASS 0/1 127 NON_SYNONYMOUS_CODING MODERATE None 0.62959 0.62960 0.29506 1.00 0.00 None None None None None None ACER3|0.282744715|28.9%

ACP2

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 sp16_multisample SP16_819 11 rs2167079
dbSNP Clinvar
47270255 472.8 C T PASS 0/1 87 NON_SYNONYMOUS_CODING MODERATE None 0.51697 0.51700 0.37987 0.89 0.00 None None None None None None ACP2|0.186646535|38.21%,NR1H3|0.14717228|43.45%

ACY3

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 sp16_multisample SP16_819 11 rs948445
dbSNP Clinvar
67414492 283.05 C T PASS 0/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.71985 0.71980 0.28643 0.23 0.00 None None None None None None ACY3|0.003638285|87.53%
View sp16_multisample SP16_819 11 rs17148450
dbSNP Clinvar
67412771 96.12 G C PASS 0/1 63 SYNONYMOUS_CODING LOW None 0.05931 0.05931 0.06560 None None None None None None ACY3|0.003638285|87.53%

ADAMTS8

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 sp16_multisample SP16_819 11 rs7927048
dbSNP Clinvar
130297948 654.29 C G PASS 1/1 75 NON_SYNONYMOUS_CODING MODERATE None 0.46925 0.46920 0.39489 0.56 0.24 None None None None None None ADAMTS8|0.042125202|65.07%
View sp16_multisample SP16_819 11 rs11222085
dbSNP Clinvar
130275749 183.64 T C PASS 0/1 84 NON_SYNONYMOUS_CODING MODERATE None 0.08387 0.08387 0.13278 0.13 0.10 None None None None None None ADAMTS8|0.042125202|65.07%
View sp16_multisample SP16_819 11 rs2131535
dbSNP Clinvar
130281488 266.53 G A PASS 0/1 103 NON_SYNONYMOUS_CODING MODERATE None 0.74401 0.74400 0.25992 1.00 0.00 None None None None None None ADAMTS8|0.042125202|65.07%
View sp16_multisample SP16_819 11 rs7942034
dbSNP Clinvar
130297957 665.78 T C PASS 1/1 77 SYNONYMOUS_CODING LOW None 0.91374 0.91370 0.11270 None None None None None None ADAMTS8|0.042125202|65.07%

AGBL2

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 sp16_multisample SP16_819 11 rs12286721
dbSNP Clinvar
47701528 42.27 C A PASS 0/1 57 NON_SYNONYMOUS_CODING MODERATE None 0.58067 0.58070 0.43045 0.07 0.00 None None None None None None AGBL2|0.048331714|63.19%

AIP

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 sp16_multisample SP16_819 11 rs641081
dbSNP Clinvar
67257823 1046.11 C A PASS 1/1 139 NON_SYNONYMOUS_CODING MODERATE None 0.84545 0.84540 0.16574 1.00 0.01 None None None None None None AIP|0.191995289|37.6%
View sp16_multisample SP16_819 11 . 67254592 16.08 T C PASS 0/1 6 NON_SYNONYMOUS_CODING MODERATE None 0.03 1.00 None None None None None None AIP|0.191995289|37.6%
View sp16_multisample SP16_819 11 rs4930199
dbSNP Clinvar
67258391 388.03 A G PASS 1/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.99940 0.99940 0.00023 1.00 0.00 None None None None None None AIP|0.191995289|37.6%

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 sp16_multisample SP16_819 11 rs11436139,rs58238184
dbSNP Clinvar
67795378 161.59 G GC PASS 1/1 25 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 sp16_multisample SP16_819 11 rs58160034,rs397695802
dbSNP Clinvar
67789293 634.04 G GC PASS 1/1 104 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 sp16_multisample SP16_819 11 rs308341
dbSNP Clinvar
67795299 55.29 G A PASS 0/1 27 SYNONYMOUS_CODING LOW None 0.24760 0.24760 0.24310 None None None None None None ALDH3B1|0.033093329|68.12%

ALDH3B2

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 sp16_multisample SP16_819 11 rs1551888
dbSNP Clinvar
67433869 75.57 C T PASS 0/1 24 NON_SYNONYMOUS_CODING MODERATE None 0.86861 0.86860 0.15022 1.00 0.00 None None None None None None ALDH3B2|0.012437844|78.93%
View sp16_multisample SP16_819 11 rs3741172
dbSNP Clinvar
67430698 215.37 G A PASS 0/1 98 SYNONYMOUS_CODING LOW None 0.06929 0.06929 0.08716 None None None None None None ALDH3B2|0.012437844|78.93%
View sp16_multisample SP16_819 11 rs1551886
dbSNP Clinvar
67430762 508.98 T C PASS 0/1 99 NON_SYNONYMOUS_CODING MODERATE None 0.86801 0.86800 0.14960 1.00 0.00 None None None None None None ALDH3B2|0.012437844|78.93%
View sp16_multisample SP16_819 11 rs17856219
dbSNP Clinvar
67431914 283.9 G A PASS 0/1 130 NON_SYNONYMOUS_CODING MODERATE None 0.07089 0.07089 0.08862 0.00 0.93 None None None None None None ALDH3B2|0.012437844|78.93%
View sp16_multisample SP16_819 11 rs6591270
dbSNP Clinvar
67432854 849.59 T C PASS 1/1 100 NON_SYNONYMOUS_CODING MODERATE None 0.93610 0.93610 0.06433 1.00 0.00 None None None None None None ALDH3B2|0.012437844|78.93%
View sp16_multisample SP16_819 11 rs2447571
dbSNP Clinvar
67432804 873.69 T C PASS 1/1 100 NON_SYNONYMOUS_CODING MODERATE None 0.99900 0.99900 0.00023 1.00 0.00 None None None None None None ALDH3B2|0.012437844|78.93%

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 sp16_multisample SP16_819 11 rs10502151
dbSNP Clinvar
111724133 110.75 C T PASS 0/1 41 NON_SYNONYMOUS_CODING MODERATE None 0.32648 0.32650 0.26369 0.06 0.12 None None None None None None ALG9|0.352156163|23.94%
View sp16_multisample SP16_819 11 rs10708475
dbSNP Clinvar
111742145 376.17 CG C PASS 1/1 67 FRAME_SHIFT HIGH None 1.00000 1.00000 0.00040 None None None None None None ALG9|0.352156163|23.94%

ALKBH3

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 sp16_multisample SP16_819 11 rs1048928
dbSNP Clinvar
43940644 759.67 G T PASS 1/1 85 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.61621 0.61620 0.46456 None None None None None None ALKBH3|0.085956572|53.95%
View sp16_multisample SP16_819 11 . 43913642 194.05 A C PASS 0/1 115 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00 0.98 None None None None None None ALKBH3|0.085956572|53.95%
View sp16_multisample SP16_819 11 rs2434478
dbSNP Clinvar
43911365 1326.61 T C PASS 1/1 160 SYNONYMOUS_CODING LOW None 0.99760 0.99760 0.00323 None None None None None None ALKBH3|0.085956572|53.95%

ALKBH8

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 sp16_multisample SP16_819 11 rs117249984
dbSNP Clinvar
107375422 55.17 C A PASS 0/1 14 NON_SYNONYMOUS_CODING MODERATE None 0.00919 0.00919 0.01643 0.00 1.00 None None None None None None ALKBH8|0.091746155|52.88%
View sp16_multisample SP16_819 11 rs645056
dbSNP Clinvar
107420530 310.67 A G PASS 0/1 58 SYNONYMOUS_CODING LOW None 0.71146 0.71150 0.22383 None None None None None None ALKBH8|0.091746155|52.88%

ALX4

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 sp16_multisample SP16_819 11 rs10769028
dbSNP Clinvar
44297054 2744.29 T C PASS 1/1 292 SYNONYMOUS_CODING LOW None 0.99161 0.99160 0.00877 None None None None None None ALX4|0.690991356|8.75%
View sp16_multisample SP16_819 11 rs115968657
dbSNP Clinvar
44331544 248.45 C G PASS 1/1 31 SYNONYMOUS_CODING LOW None 0.02636 0.02636 0.00592 None None None None None None ALX4|0.690991356|8.75%
View sp16_multisample SP16_819 11 rs3824915
dbSNP Clinvar
44331509 313.74 C G PASS 1/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.47264 0.47260 0.42421 0.00 0.88 None None None None None None ALX4|0.690991356|8.75%

AMICA1

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 sp16_multisample SP16_819 11 rs17121881
dbSNP Clinvar
118081345 922.21 A T PASS 1/1 100 NON_SYNONYMOUS_CODING MODERATE None 0.46745 0.46750 0.44735 0.00 0.98 None None None None None None AMICA1|0.006975482|83.52%
View sp16_multisample SP16_819 11 rs1793174
dbSNP Clinvar
118074337 688.04 A G PASS 1/1 80 NON_SYNONYMOUS_CODING MODERATE None 0.80252 0.80250 0.19266 0.54 0.02 None None None None None None AMICA1|0.006975482|83.52%

AMPD3

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 sp16_multisample SP16_819 11 rs3741041
dbSNP Clinvar
10521764 217.75 T C PASS 0/1 93 SYNONYMOUS_CODING LOW None 0.36741 0.36740 0.31447 None None None None None None AMPD3|0.504907229|15.58%

ANAPC15

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 sp16_multisample SP16_819 11 rs17161980
dbSNP Clinvar
71821236 571.0 A G PASS 0/1 68 SYNONYMOUS_CODING LOW None 0.17432 0.17430 0.09780 None None None None None None LRTOMT|0.134690871|45.14%,ANAPC15|0.202476619|36.46%

ANGPTL5

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 sp16_multisample SP16_819 11 rs3858418
dbSNP Clinvar
101771248 473.47 G A PASS 1/1 62 NON_SYNONYMOUS_CODING MODERATE None 0.99681 0.99680 0.00492 1.00 0.00 None None None None None None ANGPTL5|0.084272942|54.36%

ANKK1

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 sp16_multisample SP16_819 11 rs2734849
dbSNP Clinvar
113270160 185.28 A G PASS 0/1 83 NON_SYNONYMOUS_CODING MODERATE None 0.24501 0.24500 0.39192 0.85 0.00 None None None None None None ANKK1|0.031328783|68.87%
View sp16_multisample SP16_819 11 rs4938016
dbSNP Clinvar
113270015 164.2 G C PASS 1/1 19 NON_SYNONYMOUS_CODING MODERATE None 0.00539 0.54930 0.37520 1.00 0.00 None None None None None None ANKK1|0.031328783|68.87%
View sp16_multisample SP16_819 11 rs11604671
dbSNP Clinvar
113268059 180.75 G A PASS 0/1 75 NON_SYNONYMOUS_CODING MODERATE None 0.22624 0.22620 0.37467 0.61 0.00 None None None None None None ANKK1|0.031328783|68.87%
View sp16_multisample SP16_819 11 rs7118900
dbSNP Clinvar
113266821 83.36 G A PASS 0/1 26 NON_SYNONYMOUS_CODING MODERATE None 0.32049 0.32050 0.22305 0.06 0.06 None None None None None None ANKK1|0.031328783|68.87%
View sp16_multisample SP16_819 11 rs4938013
dbSNP Clinvar
113264470 178.27 A C PASS 0/1 90 SYNONYMOUS_CODING LOW None 0.66054 0.66050 0.28420 None None None None None None ANKK1|0.031328783|68.87%
View sp16_multisample SP16_819 11 rs17115439
dbSNP Clinvar
113264272 278.46 T C PASS 0/1 146 SYNONYMOUS_CODING LOW None 0.52596 0.52600 0.39937 None None None None None None ANKK1|0.031328783|68.87%
View sp16_multisample SP16_819 11 rs2734848
dbSNP Clinvar
113270374 692.68 C T PASS 1/1 78 SYNONYMOUS_CODING LOW None 0.00060 0.00060 0.24391 None None None None None None ANKK1|0.031328783|68.87%
View sp16_multisample SP16_819 11 rs1800497
dbSNP Clinvar
113270828 346.66 G A PASS 0/1 168 NON_SYNONYMOUS_CODING MODERATE None 0.32568 0.32570 0.23539 1.00 0.00 None None None None None None ANKK1|0.031328783|68.87%

ANKRD13D

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 sp16_multisample SP16_819 11 rs2298815
dbSNP Clinvar
67068859 749.32 T C PASS 1/1 86 SYNONYMOUS_CODING LOW None 0.89477 0.89480 0.09199 None None None None None None ANKRD13D|0.070594446|57.34%

ANKRD49

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 sp16_multisample SP16_819 11 rs2509943
dbSNP Clinvar
94231257 622.56 C G PASS 1/1 101 SYNONYMOUS_CODING LOW None 0.54752 0.54750 0.41022 None None None None None None ANKRD49|0.0717867|57.04%

ANO1

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 sp16_multisample SP16_819 11 rs2276067
dbSNP Clinvar
70007392 480.51 A G PASS 0/1 231 SYNONYMOUS_CODING LOW None 0.65815 0.65810 0.36090 None None None None None None ANO1|0.129436977|45.95%
View sp16_multisample SP16_819 11 rs2276066
dbSNP Clinvar
70007311 470.94 A G PASS 0/1 232 SYNONYMOUS_CODING LOW None 0.60324 0.60320 0.41343 None None None None None None ANO1|0.129436977|45.95%

ANO3

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 sp16_multisample SP16_819 11 rs10835051
dbSNP Clinvar
26677947 150.65 C T PASS 0/1 89 SYNONYMOUS_CODING LOW None 0.55851 0.55850 0.43894 None None None None None None ANO3|0.315688772|26.37%
View sp16_multisample SP16_819 11 rs2663168
dbSNP Clinvar
26568966 691.82 A G PASS 1/1 86 SYNONYMOUS_CODING LOW None 0.67512 0.67510 0.34930 None None None None None None ANO3|0.315688772|26.37%
View sp16_multisample SP16_819 11 rs7946841
dbSNP Clinvar
26656563 296.73 C T PASS 0/1 128 SYNONYMOUS_CODING LOW None 0.34125 0.34130 0.35535 None None None None None None ANO3|0.315688772|26.37%

ANO5

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 sp16_multisample SP16_819 11 rs4312063
dbSNP Clinvar
22242729 736.95 T C PASS 1/1 87 SYNONYMOUS_CODING LOW None 0.78994 0.78990 0.15557 None None None None None None ANO5|0.057436384|60.57%

ANO9

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 sp16_multisample SP16_819 11 rs7395065
dbSNP Clinvar
433387 1225.24 A G PASS 1/1 117 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 1.00 0.00 None None None None None None ANO9|0.005315208|85.4%
View sp16_multisample SP16_819 11 rs10794323
dbSNP Clinvar
428385 880.21 A G PASS 1/1 70 NON_SYNONYMOUS_CODING MODERATE None 0.92173 0.92170 0.15092 0.40 0.00 -2.19 None None None None None None ANO9|0.005315208|85.4%
View sp16_multisample SP16_819 11 rs10794324
dbSNP Clinvar
428489 212.34 T C PASS 1/1 24 NON_SYNONYMOUS_CODING MODERATE None 0.91893 0.91890 0.16818 1.00 0.00 -3.50 None None None None None None ANO9|0.005315208|85.4%

AP2A2

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 sp16_multisample SP16_819 11 rs10794358
dbSNP Clinvar
985547 721.0 C T PASS 1/1 157 SYNONYMOUS_CODING LOW None 0.46106 0.46110 0.44776 None None None None None None AP2A2|0.023484891|72.44%
View sp16_multisample SP16_819 11 . 970200 89.63 A C PASS 0/1 24 NON_SYNONYMOUS_CODING MODERATE None 0.00 1.00 2.80 0.09 0.75209 D None None None None AP2A2|0.023484891|72.44%

APIP

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 sp16_multisample SP16_819 11 rs61734605
dbSNP Clinvar
34916657 135.26 C T PASS 0/1 100 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.11462 0.11460 0.24946 0.07 0.05 None None None None None None APIP|0.209674362|35.61%
View sp16_multisample SP16_819 11 rs1571133
dbSNP Clinvar
34909926 276.95 T G PASS 1/1 46 SYNONYMOUS_CODING LOW None 0.57947 0.57950 0.40185 None None None None None None APIP|0.209674362|35.61%
View sp16_multisample SP16_819 11 rs2956114
dbSNP Clinvar
34937813 100.05 G A PASS 0/1 27 START_GAINED LOW None 0.43470 0.43470 0.31670 0.02 0.01 None None None None None None APIP|0.209674362|35.61%,PDHX|0.779810523|6.33%
View sp16_multisample SP16_819 11 rs1977420
dbSNP Clinvar
34910397 336.75 C T PASS 0/1 143 NON_SYNONYMOUS_CODING MODERATE None 0.45747 0.45750 0.34098 0.12 0.02 None None None None None None APIP|0.209674362|35.61%

APLNR

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 sp16_multisample SP16_819 11 rs948847
dbSNP Clinvar
57004344 278.01 G T PASS 1/1 55 SYNONYMOUS_CODING LOW None 0.58467 0.58470 0.48438 None None None None None None APLNR|0.396612969|20.99%

APOA4

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 sp16_multisample SP16_819 11 rs5110
dbSNP Clinvar
116691634 330.02 C A PASS 0/1 179 NON_SYNONYMOUS_CODING MODERATE None 0.02376 0.02376 0.06082 0.08 0.00 None None None None None None APOA4|0.026315681|71.18%
View sp16_multisample SP16_819 11 rs5092
dbSNP Clinvar
116693464 850.52 C T PASS 1/1 120 SYNONYMOUS_CODING LOW None 0.71985 0.71980 0.16146 None None None None None None APOA4|0.026315681|71.18%
View sp16_multisample SP16_819 11 rs5104
dbSNP Clinvar
116692334 658.77 C T PASS 1/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.75919 0.75920 0.12629 1.00 0.00 None None None None None None APOA4|0.026315681|71.18%
View sp16_multisample SP16_819 11 rs675
dbSNP Clinvar
116691675 325.85 T A PASS 0/1 144 NON_SYNONYMOUS_CODING MODERATE None 0.00040 0.09884 0.16854 0.36 0.01 None None None None None None APOA4|0.026315681|71.18%

APOC3

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 sp16_multisample SP16_819 11 rs4520
dbSNP Clinvar
116701535 477.21 T C PASS 1/1 53 SYNONYMOUS_CODING LOW None 0.59705 0.59700 0.25935 None None None None None None APOC3|0.026161452|71.25%

ARAP1

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 sp16_multisample SP16_819 11 rs2291289
dbSNP Clinvar
72408657 336.89 C T PASS 1/1 44 SYNONYMOUS_CODING LOW None 0.25899 0.25900 0.34129 None None None None None None ARAP1|0.193135923|37.51%

ARCN1

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 sp16_multisample SP16_819 11 rs11216925
dbSNP Clinvar
118471423 615.0 T C PASS 1/1 100 SYNONYMOUS_CODING LOW None 0.28035 0.28040 0.14865 None None None None None None ARCN1|0.675421925|9.21%

ARFGAP2

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 sp16_multisample SP16_819 11 rs3740691
dbSNP Clinvar
47188411 443.36 C T PASS 0/1 192 NON_SYNONYMOUS_CODING MODERATE None 0.38858 0.38860 0.41739 0.42 0.00 None None None None None None ARFGAP2|0.358971982|23.5%
View sp16_multisample SP16_819 11 rs4752820
dbSNP Clinvar
47188314 352.43 T C PASS 1/1 26 SYNONYMOUS_CODING LOW None 0.99880 0.99880 0.00185 None None None None None None ARFGAP2|0.358971982|23.5%

ARHGAP1

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 sp16_multisample SP16_819 11 rs4268467
dbSNP Clinvar
46702920 728.53 T C PASS 1/1 106 SYNONYMOUS_CODING LOW None 0.99920 0.99920 0.00139 None None None None None None ARHGAP1|0.356432776|23.73%

ARHGAP32

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 sp16_multisample SP16_819 11 rs670440
dbSNP Clinvar
128868239 1284.74 T C PASS 1/1 137 SYNONYMOUS_CODING LOW None 0.57109 0.57110 0.33926 None None None None None None ARHGAP32|0.193856794|37.43%

ARHGEF12

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 sp16_multisample SP16_819 11 rs2305013
dbSNP Clinvar
120340060 118.3 A T PASS 0/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.06330 0.06330 0.03847 0.12 0.01 None None None None None None ARHGEF12|0.378503864|22.14%

ARHGEF17

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 sp16_multisample SP16_819 11 rs61749197
dbSNP Clinvar
73076590 198.71 C T PASS 0/1 103 SYNONYMOUS_CODING LOW None 0.03235 0.03235 0.06692 None None None None None None ARHGEF17|0.03247462|68.39%

ART1

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 sp16_multisample SP16_819 11 rs35123761
dbSNP Clinvar
3681063 189.34 C T PASS 0/1 41 NON_SYNONYMOUS_CODING MODERATE None 0.09385 0.09385 0.07694 0.27 0.01 None None None None None None ART1|0.034283221|67.7%
View sp16_multisample SP16_819 11 rs150574054
dbSNP Clinvar
3681483 261.9 C G PASS 0/1 139 NON_SYNONYMOUS_CODING MODERATE None 0.00180 0.00180 0.00623 0.00 1.00 None None None None None None ART1|0.034283221|67.7%
View sp16_multisample SP16_819 11 rs35136756
dbSNP Clinvar
3681115 235.18 A G PASS 1/1 33 SYNONYMOUS_CODING LOW None 0.15795 0.15790 0.17705 None None None None None None ART1|0.034283221|67.7%
View sp16_multisample SP16_819 11 rs2280134
dbSNP Clinvar
3681519 1354.09 T C PASS 1/1 139 NON_SYNONYMOUS_CODING MODERATE None 0.55172 0.55170 0.38598 1.00 0.00 None None None None None None ART1|0.034283221|67.7%
View sp16_multisample SP16_819 11 rs61998205
dbSNP Clinvar
3681051 106.9 C G PASS 0/1 42 NON_SYNONYMOUS_CODING MODERATE None 0.03734 0.03734 0.08132 0.22 0.04 None None None None None None ART1|0.034283221|67.7%

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 sp16_multisample SP16_819 11 rs2271586
dbSNP Clinvar
3659993 104.8 G T PASS 0/1 54 NON_SYNONYMOUS_CODING MODERATE None 0.29952 0.29950 0.30851 1.00 0.00 None None None None None None ART5|0.101580058|50.85%
View sp16_multisample SP16_819 11 . 3661588 150.73 G GT... PASS 1/1 29 FRAME_SHIFT HIGH None None None None None None None ART5|0.101580058|50.85%
View sp16_multisample SP16_819 11 rs200162379
dbSNP Clinvar
3661589 57.6 G T PASS 0/1 29 NON_SYNONYMOUS_CODING MODERATE None 0.33 0.01 None None None None None None ART5|0.101580058|50.85%
View sp16_multisample SP16_819 11 rs3062849
dbSNP Clinvar
3661585 22.78 A ATGG PASS 0/1 27 CODON_INSERTION MODERATE None 0.96745 0.96750 0.03526 None None None None None None ART5|0.101580058|50.85%
View sp16_multisample SP16_819 11 rs4910876
dbSNP Clinvar
3661140 663.29 T C PASS 1/1 79 SYNONYMOUS_CODING LOW None 0.99062 0.99060 0.00823 None None None None None None ART5|0.101580058|50.85%

ASCL3

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 sp16_multisample SP16_819 11 rs4909951
dbSNP Clinvar
8959545 719.03 C A PASS 1/1 147 NON_SYNONYMOUS_CODING MODERATE None 0.54573 0.54570 0.45313 1.00 0.00 None None None None None None ASCL3|0.117246772|47.89%
View sp16_multisample SP16_819 11 rs4910179
dbSNP Clinvar
8959511 516.23 T G PASS 0/1 78 SYNONYMOUS_CODING LOW None 0.66074 0.66070 0.40317 None None None None None None ASCL3|0.117246772|47.89%

ATG13

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 sp16_multisample SP16_819 11 rs201283219
dbSNP Clinvar
46679149 19.52 T C PASS 0/1 22 SYNONYMOUS_CODING LOW None 0.00938 0.00939 None None None None None None ATG13|0.454922071|17.94%

ATG2A

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 sp16_multisample SP16_819 11 rs618006
dbSNP Clinvar
64680819 515.05 G A PASS 1/1 64 SYNONYMOUS_CODING LOW None 0.55172 0.55170 0.36080 None None None None None None ATG2A|0.043961932|64.54%
View sp16_multisample SP16_819 11 rs656195
dbSNP Clinvar
64677293 1358.4 G C PASS 1/1 152 NON_SYNONYMOUS_CODING MODERATE None 0.99860 0.99860 0.00054 0.82 0.00 None None None None None None ATG2A|0.043961932|64.54%