SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
MUTATION TYPE:
CHR:

POS:
VARIANT EFFECT FUNCTIONAL CLASS IMPACT
DBSNP BUILD:


EXCLUDE VARIANTS AT VARISNP
READ DEPTH:

QUAL:
VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED
EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP
ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE
POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE
MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
OPEN RESULT IN A NEW WINDOW
RESET FILTER | Save Config | Save Analysis

Genes:
AAMDC, ABCC8, ACAT1, ACCS, ACCSL, ACER3, ACTN3, ACY3, ADAMTS8, ADRBK1, AHNAK, AIP, AKIP1, ALDH3B1, ALDH3B2, ALG9, ALKBH3, ALKBH8, ALX4, AMICA1, AMOTL1, AMPD3, ANGPTL5, ANKK1, ANKRD13D, ANKRD42, ANKRD49, ANO1, ANO3, ANO5, ANO9, AP000679.2, AP000783.1, AP000974.1, AP001024.2, AP003062.1, AP003068.23, AP2A2, AP5B1, APIP, APLNR, APOA4, APOC3, ARAP1, ARCN1, ARFGAP2, ARFIP2, ARHGAP1, ARHGAP32, ARHGAP42, ARHGEF12, ARHGEF17, ARL2, ARNTL, ART1, ART5, ASCL3, ATG16L2, ATG2A, ATHL1, ATM, B3GNT6, B4GALNT4, BACE1, BARX2, BBOX1, BBS1, BCL9L, BCO2, BDNF, BEST1, BET1L, BRMS1, BSCL2, BTG4, BUD13, C11orf16, C11orf21, C11orf24, C11orf30, C11orf35, C11orf40, C11orf42, C11orf48, C11orf49, C11orf52, C11orf54, C11orf63, C11orf68, C11orf72, C11orf80, C11orf82, C11orf83, C11orf84, C11orf89, C11orf91, C11orf96, C2CD2L, C2CD3, CABP2, CALCA, CAPN1, CAPN5, CASP12, CASP4, CASP5, CATSPER1, CCDC179, CCDC67, CCDC73, CCDC81, CCDC86, CCDC88B, CCDC90B, CCS, CD151, CD248, CD3E, CD3G, CD44, CD5, CD6, CD81, CD82, CDC42BPG, CDCA5, CDHR5, CDK2AP2, CDON, CEND1, CEP164, CEP57, CFL1, CHEK1, CHID1, CHORDC1, CHRDL2, CHRM4, CHST1, CNGA4, CNTN5, CPSF7, CPT1A, CREB3L1, CRTAM, CSNK2A3, CSRP3, CTNND1, CTR9, CTSC, CTSF, CTSW, CUL5, CWC15, CWF19L2, CYB5R2, CYP2R1, DAK, DCHS1, DCPS, DDB2, DDX25, DEAF1, DEFB108B, DEPDC7, DGKZ, DHCR7, DIXDC1, DKK3, DLAT, DNAJB13, DNHD1, DPAGT1, DPP3, DRD2, DRD4, DSCAML1, DTX4, DUSP8, DYNC2H1, E2F8, EEF1G, EFCAB4A, EFEMP2, EHBP1L1, EHD1, EHF, EI24, EIF3F, EIF4G2, ELF5, EML3, ENDOD1, EPS8L2, ESRRA, ETS1, EXPH5, FADS3, FAM111A, FAM111B, FAM160A2, FAM180B, FAM76B, FAM86C1, FANCF, FAT3, FDX1, FDXACB1, FERMT3, FKBP2, FLI1, FLRT1, FNBP4, FOSL1, FOXR1, FRMD8, FSHB, GAL3ST3, GALNT18, GAS2, GDPD4, GDPD5, GIF, GLB1L2, GLB1L3, GLYAT, GLYATL2, GPR137, GRAMD1B, GRIK4, GRM5, GSTP1, GYLTL1B, HBB, HEPACAM, HEPHL1, HEPN1, HINFP, HMBS, HPS5, HRASLS5, HSPA8, HTATIP2, HYLS1, HYOU1, IFITM1, IFITM10, IFITM2, IFITM3, IFITM5, IFT46, IGHMBP2, IGSF22, IGSF9B, IL10RA, IL18, ILK, INCENP, INS, INSC, INTS4, IPO7, IRF7, KCNJ11, KCNJ5, KCNK4, KCNQ1, KCTD14, KDM2A, KDM4D, KDM4E, KIAA1377, KIAA1549L, KIAA1731, KIRREL3, KLC2, KLHL35, KRTAP5-10, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-8, KRTAP5-9, LAYN, LDHA, LDHC, LDLRAD3, LGR4, LIPT2, LMO1, LMO2, LRFN4, LRP4, LRP5, LRRC32, LRRC4C, LRRC55, LRRC56, LRTOMT, LSP1, LTBP3, LUZP2, MACROD1, MADD, MAML2, MAP3K11, MAP6, MCAM, MDK, ME3, MED17, MEN1, METTL12, METTL15, MFRP, MICALCL, MMP1, MMP10, MMP20, MMP27, MMP3, MMP8, MOB2, MOGAT2, MPEG1, MPZL3, MRGPRD, MRGPRF, MRGPRG, MRGPRX1, MRGPRX2, MRGPRX3, MRGPRX4, MRPL11, MRPL23, MRVI1, MS4A10, MS4A13, MS4A14, MS4A15, MS4A4A, MS4A4E, MS4A5, MS4A6A, MS4A6E, MS4A7, MSANTD2, MUC15, MUC2, MUC5AC, MUC5B, MUC6, MUS81, MYBPC3, MYO7A, MYRF, NAALAD2, NADSYN1, NARS2, NAT10, NAV2, NCAM1, NCR3LG1, NDUFC2, NELL1, NEU3, NFRKB, NLRP10, NLRP14, NLRP6, NLRX1, NOX4, NPAT, NRXN2, NTM, NUCB2, NUDT22, NUDT8, NUP160, NXF1, NXPE1, NXPE2, NXPE4, OAF, ODF3, OMP, OR10A2, OR10A4, OR10A6, OR10D3, OR10G4, OR10G7, OR10G9, OR10Q1, OR10S1, OR10V1, OR1S1, OR2AG2, OR2D2, OR2D3, OR4A16, OR4A5, OR4B1, OR4C11, OR4C12, OR4C13, OR4C15, OR4C16, OR4C3, OR4C46, OR4C5, OR4D11, OR4D6, OR4S1, OR4X1, OR51A2, OR51A4, OR51A7, OR51B2, OR51B4, OR51B5, OR51B6, OR51E1, OR51E2, OR51F1, OR51G1, OR51H1P, OR51I1, OR51I2, OR51J1, OR51L1, OR51M1, OR51Q1, OR51S1, OR51V1, OR52A1, OR52B1P, OR52B4, OR52B6, OR52D1, OR52E2, OR52E4, OR52E6, OR52E8, OR52H1, OR52I1, OR52J3, OR52K1, OR52K2, OR52L1, OR52M1, OR52N1, OR52N2, OR52N4, OR52N5, OR52R1, OR52W1, OR56A1, OR56A3, OR56A4, OR56B1, OR56B4, OR5A1, OR5A2, OR5AK2, OR5AN1, OR5AP2, OR5AS1, OR5B12, OR5B2, OR5B3, OR5D13, OR5D14, OR5D18, OR5F1, OR5P2, OR5P3, OR5R1, OR5W2, OR6A2, OR6M1, OR6Q1, OR8A1, OR8B2, OR8B3, OR8B4, OR8B8, OR8D1, OR8D2, OR8D4, OR8G1, OR8H2, OR8H3, OR8J1, OR8U1, OR9G1, OR9G4, OSBPL5, OTOG, OVCH2, P2RX3, P2RY2, PACS1, PAFAH1B2, PAMR1, PANX1, PARVA, PATE1, PC, PCF11, PCNXL3, PCSK7, PDDC1, PDE2A, PDE3B, PDHX, PDZD3, PELI3, PEX16, PGA3, PGM2L1, PHF21A, PHLDB1, PHRF1, PICALM, PIK3C2A, PITPNM1, PKP3, PLCB3, PLEKHA7, PLET1, PNPLA2, POLR2L, POU2AF1, POU2F3, PPFIBP2, PPP1R32, PRCP, PRDM10, PRDM11, PRDX5, PRG2, PRG3, PRKCDBP, PRMT3, PRPF19, PRR5L, PRRG4, PSMD13, PTDSS2, PTGDR2, PTH, PTPRJ, PUS3, PVRL1, QSER1, RAB38, RAB6A, RAG1, RAPSN, RARRES3, RASGRP2, RBM14, RBMXL2, RCN1, RCOR2, RELA, RHOD, RIC3, RIN1, RNASEH2C, RNF141, RNF26, ROBO3, ROBO4, ROM1, RP11-111M22.2, RP11-113D6.6, RP11-794P6.2, RPS6KA4, RPS6KB2, RPUSD4, RRM1, RRP8, RSF1, RTN3, SAA1, SAA2, SAA4, SAAL1, SAC3D1, SART1, SCGB1C1, SCUBE2, SDHAF2, SDHD, SERGEF, SERPING1, SERPINH1, SF3B2, SHANK2, SIGIRR, SIPA1, SIRT3, SLC15A3, SLC1A2, SLC22A10, SLC22A12, SLC22A18, SLC22A18AS, SLC22A24, SLC22A25, SLC25A22, SLC25A45, SLC37A2, SLC37A4, SLC39A13, SLC5A12, SLC6A5, SLCO2B1, SMCO4, SMPD1, SNX15, SNX19, SORL1, SOX6, SPATA19, SPCS2, SPI1, SPTBN2, SRSF8, ST14, ST5, STARD10, STIM1, STK33, SUV420H1, SWAP70, SYT7, SYT8, SYT9, SYTL2, TAF10, TAF1D, TBC1D10C, TBX10, TCIRG1, TCN1, TCP11L1, TECTA, TENM4, TEX12, TEX40, TH, THY1, TIMM10B, TIRAP, TM7SF2, TMEM109, TMEM123, TMEM132A, TMEM135, TMEM136, TMEM216, TMEM223, TMEM225, TMEM25, TMEM262, TMEM86A, TMPRSS13, TMPRSS4, TMPRSS5, TNKS1BP1, TNNI2, TOLLIP, TP53AIP1, TP53I11, TPCN2, TPP1, TREH, TRIM22, TRIM29, TRIM3, TRIM49, TRIM49B, TRIM49C, TRIM5, TRIM51, TRIM64B, TRIM66, TRIM77, TRPC6, TRPM5, TRPT1, TSGA10IP, TSKU, TSPAN32, TSPAN4, TSSC4, TTC12, TTC9C, TUB, TUT1, TYR, UBE2L6, UBQLN3, UBQLNL, UCP2, UEVLD, UNC93B1, USH1C, USP2, USP28, USP35, USP47, VPS11, VPS51, VSTM5, VWA5A, WEE1, WNT11, ZBTB3, ZDHHC13, ZDHHC24, ZDHHC5, ZFP91, ZNF143, ZNF202, ZNF214, ZNF215, ZNHIT2, ZP1,

Genes at Omim

ABCC8, ACAT1, ACER3, ACTN3, AIP, ALG9, ALX4, AMPD3, ANO3, ANO5, APOC3, ARCN1, ATM, BBS1, BEST1, BSCL2, C2CD3, CABP2, CAPN1, CAPN5, CASP12, CATSPER1, CD151, CD3E, CD3G, CD44, CD81, CDON, CEP164, CEP57, CPT1A, CREB3L1, CSRP3, CTNND1, CTSC, CTSF, CYP2R1, DCHS1, DCPS, DDB2, DEAF1, DHCR7, DLAT, DNAJB13, DPAGT1, DRD4, DYNC2H1, EFEMP2, EIF3F, EPS8L2, EXPH5, FAM111A, FAM111B, FANCF, FERMT3, FLI1, FSHB, GIF, HBB, HEPACAM, HMBS, HPS5, HYLS1, HYOU1, IFITM3, IFITM5, IGHMBP2, IL10RA, INS, IRF7, KCNJ11, KCNJ5, KCNQ1, KLC2, LDHA, LGR4, LIPT2, LMO1, LMO2, LRP4, LRP5, LRRC56, LRTOMT, LTBP3, MAML2, MED17, MEN1, MFRP, MMP1, MMP20, MMP3, MUC5B, MYBPC3, MYO7A, MYRF, NARS2, NUP160, OTOG, PACS1, PC, PDHX, PEX16, PICALM, PNPLA2, PTH, PTPRJ, PUS3, RAG1, RAPSN, RASGRP2, RELA, RNASEH2C, ROBO3, ROM1, SDHAF2, SDHD, SERPINH1, SHANK2, SLC1A2, SLC22A12, SLC25A22, SLC37A4, SLC39A13, SLC6A5, SMPD1, SPTBN2, ST14, STIM1, TCIRG1, TECTA, TENM4, TH, TIRAP, TMEM216, TNNI2, TPCN2, TPP1, TREH, TRPC6, TUB, TYR, UCP2, 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)
ACTN3 [Alpha-actinin-3 deficiency], 617749 (3)
[Sprinting performance], 617749 (3)
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)
BBS1 Bardet-Biedl syndrome 1, 209900 (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)
C2CD3 ?Orofaciodigital syndrome XIV, 615948 (3)
CABP2 Deafness, autosomal recessive 93, 614899 (3)
CAPN1 Spastic paraplegia 76, autosomal recessive, 616907 (3)
CAPN5 Vitreoretinopathy, neovascular inflammatory, 193235 (3)
CASP12 {Sepsis, susceptibility to} (3)
CATSPER1 Spermatogenic failure 7, 612997 (3)
CD151 Nephropathy with pretibial epidermolysis bullosa and deafness, 609057 (3)
[Blood group, Raph], 179620 (3)
CD3E Immunodeficiency 18, 615615 (3)
Immunodeficiency 18, SCID variant, 615615 (3)
CD3G Immunodeficiency 17, CD3 gamma deficient, 615607 (3)
CD44 [Blood group, Indian system], 609027 (3)
CD81 Immunodeficiency, common variable, 6, 613496 (3)
CDON Holoprosencephaly 11, 614226 (3)
CEP164 Nephronophthisis 15, 614845 (3)
CEP57 Mosaic variegated aneuploidy syndrome 2, 614114 (3)
CPT1A CPT deficiency, hepatic, type IA, 255120 (3)
CREB3L1 Osteogenesis imperfecta, type XVI, 616229 (3)
CSRP3 Cardiomyopathy, hypertrophic, 12, 612124 (3)
?Cardiomyopathy, dilated, 1M, 607482 (3)
CTNND1 Blepharocheilodontic syndrome 2, 617681 (3)
CTSC Haim-Munk syndrome, 245010 (3)
Papillon-Lefevre syndrome, 245000 (3)
Periodontitis 1, juvenile, 170650 (3)
CTSF Ceroid lipofuscinosis, neuronal, 13, Kufs type, 615362 (3)
CYP2R1 Rickets due to defect in vitamin D 25-hydroxylation, 600081 (3)
DCHS1 Mitral valve prolapse 2, 607829 (3)
Van Maldergem syndrome 1, 601390 (3)
DCPS Al-Raqad syndrome, 616459 (3)
DDB2 Xeroderma pigmentosum, group E, DDB-negative subtype, 278740 (3)
DEAF1 ?Dyskinesia, seizures, and intellectual developmental disorder, 617171 (3)
Mental retardation, autosomal dominant 24, 615828 (3)
DHCR7 Smith-Lemli-Opitz syndrome, 270400 (3)
DLAT Pyruvate dehydrogenase E2 deficiency, 245348 (3)
DNAJB13 Ciliary dyskinesia, primary, 34, 617091 (3)
DPAGT1 Congenital disorder of glycosylation, type Ij, 608093 (3)
Myasthenic syndrome, congenital, 13, with tubular aggregates, 614750 (3)
DRD4 Autonomic nervous system dysfunction (3)
[Novelty seeking personality], 601696 (1)
{Attention deficit-hyperactivity disorder}, 143465 (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)
FAM111A Gracile bone dysplasia, 602361 (3)
Kenny-Caffey syndrome, type 2, 127000 (3)
FAM111B Poikiloderma, hereditary fibrosing, with tendon contractures, myopathy, and pulmonary fibrosis, 615704 (3)
FANCF Fanconi anemia, complementation group F, 603467 (3)
FERMT3 Leukocyte adhesion deficiency, type III, 612840 (3)
FLI1 Bleeding disorder, platelet-type, 21, 617443 (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)
HEPACAM Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925 (3)
Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926 (3)
HMBS Porphyria, acute intermittent, 176000 (3)
Porphyria, acute intermittent, nonerythroid variant, 176000 (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)
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)
KCNQ1 Atrial fibrillation, familial, 3, 607554 (3)
{Long QT syndrome 1, acquired, susceptibility to}, 192500 (3)
Long QT syndrome 1, 192500 (3)
Jervell and Lange-Nielsen syndrome, 220400 (3)
Short QT syndrome 2, 609621 (3)
KLC2 Spastic paraplegia, optic atrophy, and neuropathy, 609541 (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)
LRTOMT Deafness, autosomal recessive 63, 611451 (3)
LTBP3 Geleophysic dysplasia 3, 617809 (3)
Dental anomalies and short stature, 601216 (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)
NUP160 ?Nephrotic syndrome, type 19, 618178 (3)
OTOG Deafness, autosomal recessive 18B, 614945 (3)
PACS1 Schuurs-Hoeijmakers syndrome, 615009 (3)
PC Pyruvate carboxylase deficiency, 266150 (3)
PDHX Lacticacidemia due to PDX1 deficiency, 245349 (3)
PEX16 Peroxisome biogenesis disorder 8A (Zellweger), 614876 (3)
Peroxisome biogenesis disorder 8B, 614877 (3)
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)
RASGRP2 ?Bleeding disorder, platelet-type, 18, 615888 (3)
RELA ?Mucocutaneous ulceration, chronic, 618287 (3)
RNASEH2C Aicardi-Goutieres syndrome 3, 610329 (3)
ROBO3 Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 (3)
ROM1 Retinitis pigmentosa 7, digenic form, 608133 (3)
SDHAF2 Paragangliomas 2, 601650 (3)
SDHD Mitochondrial complex II deficiency, 252011 (3)
Paraganglioma and gastric stromal sarcoma, 606864 (3)
Paragangliomas 1, with or without deafness, 168000 (3)
Pheochromocytoma, 171300 (3)
SERPINH1 {Preterm premature rupture of the membranes, susceptibility to}, 610504 (3)
Osteogenesis imperfecta, type X, 613848 (3)
SHANK2 {Autism susceptibility 17}, 613436 (3)
SLC1A2 Epileptic encephalopathy, early infantile, 41, 617105 (3)
SLC22A12 Hypouricemia, renal, 220150 (3)
SLC25A22 Epileptic encephalopathy, early infantile, 3, 609304 (3)
SLC37A4 Glycogen storage disease Ib, 232220 (3)
Glycogen storage disease Ic, 232240 (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)
TCIRG1 Osteopetrosis, autosomal recessive 1, 259700 (3)
TECTA Deafness, autosomal dominant 8/12, 601543 (3)
Deafness, autosomal recessive 21, 603629 (3)
TENM4 Essential tremor, hereditary, 5, 616736 (3)
TH Segawa syndrome, recessive, 605407 (3)
TIRAP {Malaria, protection against}, 611162 (3)
{Pneumococcal disease, invasive, protection against}, 610799 (3)
{Tuberculosis, protection against}, 607948 (3)
{Bacteremia, protection against}, 614382 (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)
TPP1 Ceroid lipofuscinosis, neuronal, 2, 204500 (3)
Spinocerebellar ataxia, autosomal recessive 7, 609270 (3)
TREH Trehalase deficiency, 612119 (3)
TRPC6 Glomerulosclerosis, focal segmental, 2, 603965 (3)
TUB ?Retinal dystrophy and obesity, 616188 (3)
TYR Albinism, oculocutaneous, type IA, 203100 (3)
Albinism, oculocutaneous, type IB, 606952 (3)
{Melanoma, cutaneous malignant, susceptibility to, 8}, 601800 (3)
Waardenburg syndrome/albinism, digenic, 103470 (3)
[Skin/hair/eye pigmentation 3, blue/green eyes], 601800 (3)
[Skin/hair/eye pigmentation 3, light/dark/freckling skin], 601800 (3)
UCP2 {Obesity, susceptibility to, BMIQ4}, 607447 (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, BBS1, BDNF, BEST1, BSCL2, C2CD3, CABP2, CAPN1, CAPN5, CD151, CD3E, CD3G, CD44, CD81, CDON, CEP164, CEP57, CPT1A, CREB3L1, CSRP3, CTSC, CTSF, CYP2R1, DCHS1, DCPS, DDB2, DEAF1, DHCR7, DLAT, DPAGT1, DRD2, DYNC2H1, EFEMP2, EXPH5, FAM111A, FAM111B, FANCF, FERMT3, FLI1, FSHB, GIF, GRIK4, HBB, HEPACAM, HMBS, HPS5, HYLS1, IFITM5, IGHMBP2, IL10RA, INS, IRF7, KCNJ11, KCNJ5, KCNQ1, KIRREL3, KLC2, LDHA, LRP4, LRP5, LRTOMT, LTBP3, MED17, MEN1, MFRP, MMP20, MYBPC3, MYO7A, NARS2, NPAT, OTOG, PACS1, PC, PDHX, PEX16, PNPLA2, PTH, RAG1, RAPSN, RASGRP2, RNASEH2C, ROBO3, ROM1, SDHAF2, SDHD, SERPING1, SERPINH1, SHANK2, SLC22A12, SLC25A22, SLC37A4, SLC39A13, SLC6A5, SMPD1, SPTBN2, ST14, STIM1, TCIRG1, TECTA, TENM4, TH, TMEM216, TNNI2, TPCN2, TPP1, TRPC6, TUB, TYR, 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
BBS1 Bardet-Biedl syndrome 1
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
C2CD3 Orofaciodigital syndrome XIV
CABP2 Deafness, autosomal recessive 93
CAPN1 Spastic paraplegia 76, autosomal recessive
CAPN5 Vitreoretinopathy, neovascular inflammatory
CD151 Raph blood group
CD3E Immunodeficiency 18
CD3G Immunodeficiency 17
CD44 Blood group, Indian
CD81 Immunodeficiency, common variable, 6
CDON Holoprosencephaly 11
CEP164 Nephronophthisis 15
CEP57 Mosaic variegated aneuploidy syndrome 2
CPT1A Carnitine palmitoyltransferase deficiency I
CREB3L1 Osteogenesis imperfecta, type XVI
CSRP3 Cardiomyopathy, familial hypertrophic 12
Cardiomyopathy, dilated, 1M
CTSC Haim-Munk syndrome
Papillon-Lefevre syndrome
Periodontitis 1, juvenile
CTSF Neuronal ceroid lipofuscinosis 13
CYP2R1 Vitamin D hydroxylation deficient rickets, type 1B
DCHS1 Mitral valve prolapse 2
DCPS Al-Raqad syndrome
DDB2 Xeroderma pigmentosum, group E
DEAF1 Mental retardation, autosomal dominant 24
DHCR7 Smith-Lemli-Opitz syndrome
DLAT Pyruvate dehydrogenase E2 deficiency
DPAGT1 Myasthenic syndrome, congenital, 13
Congenital disorder of glycosylation, type Ij (AR)
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
FAM111A Kenny-Caffey syndrome, type 2
FAM111B Hereditary Fibrosing Poikiloderma with Tendon Contracture, Myopathy, and Pulmonary Fibrosis
FANCF Fanconia anemia, complementation group F
FERMT3 Leukocyte adhesion deficiency, type III
FLI1 Thrombocytopenia, Paris-Trousseau type
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
HEPACAM Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation
Megalencephalic leukoencephalopathy with subcortical cysts 2A
HMBS Hydroxymethylbilane synthase deficiency
Porphyria, acute intermittent
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
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
KCNQ1 Long QT syndrome 1
Jervell and Lange-Nielsen syndrome 1
Short QT syndrome 2
Atrial fibrillation, familial 3
KIRREL3 Mental retardation, autosomal dominant 4
KLC2 Spastic paraplegia, optic atrophy, and neuropathy
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
LRTOMT Deafness, autosomal recessive 63
LTBP3 Dental anomalies and short stature
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
OTOG Deafness, autosomal recessive 18B
PACS1 Mental retardation, autosomal dominant 17
PC Pyruvate carboxylase deficiency
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
RASGRP2 Bleeding disorder, platelet-type, 18
RNASEH2C Aicardi-Goutieres syndrome 3
ROBO3 Gaze palsy, horizontal, with progressive scoliosis
ROM1 Retinitis pigmentosa 7, digenic
SDHAF2 Paragangliomas 2
SDHD Cowden syndrome 3
Paraganglioma and gastric stromal sarcoma
Pheochromocytoma
Paragangliomas 1
Carcinoid tumors, intestinal
SERPING1 Angioedema, hereditary
SERPINH1 Osteogenesis imperfecta, type X
SHANK2 Autism, susceptibility to 17
SLC22A12 Hypouricemia, renal 1
SLC25A22 Epileptic encephalopathy, early infantile, 3
SLC37A4 Glycogen storage disease Ib
Glycogen storage disease Ic
Glycogen storage disease Id
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
TCIRG1 Osteopetrosis, autosomal recessive 1
TECTA Deafness, autosomal recessive 21
Deafness, autosomal dominant 8/12
TENM4 Tremor, hereditary essential, 5
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
TPP1 Ceroid lipofuscinosis, neuronal, 2
Spinocerebellar ataxia, autosomal recessive 7
TRPC6 Focal segmental glomerulosclerosis 2
TUB Retinal dystrophy and obesity
TYR Albinism, oculocutaneous, type IA
Albinism, oculocutaneous, type IB
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: 2807
Number of Genes: 732

Export to: CSV

AAMDC

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 el-exome_s1 11 rs585721
dbSNP Clinvar
77553638 185.01 T C PASS 0/1 30 SYNONYMOUS_CODING LOW None 0.39078 0.39080 0.42036 None None None None None None AAMDC|0.466531332|17.33%
View el-exome_s1 11 rs60400274,rs397702235
dbSNP Clinvar
77629132 1860.2 A AT PASS 1/1 48 None None None 0.72963 0.72960 None None None None None None AAMDC|0.466531332|17.33%,INTS4|0.13856273|44.61%

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 el-exome_s1 11 rs1799857
dbSNP Clinvar
17452492 977.83 G A PASS 0/1 76 SYNONYMOUS_CODING LOW None 0.42991 0.42990 0.45873 None None None None None None ABCC8|0.967482639|1.79%
View el-exome_s1 11 rs58241708
dbSNP Clinvar
17450177 387.22 G A PASS 0/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.00200 0.00200 0.00362 0.02 0.39 None None None None None None ABCC8|0.967482639|1.79%
View el-exome_s1 11 rs757110
dbSNP Clinvar
17418477 632.15 C A PASS 0/1 59 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 el-exome_s1 11 rs1799859
dbSNP Clinvar
17419279 1405.11 C T PASS 0/1 150 SYNONYMOUS_CODING LOW None 0.39097 0.39100 0.40967 None None None None None None ABCC8|0.967482639|1.79%
View el-exome_s1 11 rs775415714
dbSNP Clinvar
17449927 4.59 C T LowGQX;LowQD 0/1 7 NON_SYNONYMOUS_CODING MODERATE None 0.40 0.00 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 el-exome_s1 11 rs35188041
dbSNP Clinvar
108009660 1268.66 C A PASS 0/1 124 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.12700 0.12700 0.18180 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 el-exome_s1 11 rs33952257
dbSNP Clinvar
44089352 1270.74 G A PASS 0/1 154 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 el-exome_s1 11 rs2074051
dbSNP Clinvar
44080210 717.74 T C PASS 1/1 29 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 el-exome_s1 11 rs4379869
dbSNP Clinvar
76637651 622.18 G A PASS 1/1 27 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%
View el-exome_s1 11 rs3740767
dbSNP Clinvar
76701606 624.43 G A PASS 1/1 28 SYNONYMOUS_CODING LOW None 0.53295 0.53290 0.40072 None None None None None None ACER3|0.282744715|28.9%
View el-exome_s1 11 rs4479014
dbSNP Clinvar
76637680 666.92 G A PASS 1/1 29 SYNONYMOUS_CODING LOW None 0.50379 0.50380 0.41728 None None None None None None ACER3|0.282744715|28.9%

ACTN3

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 el-exome_s1 11 rs1815739
dbSNP Clinvar
66328095 901.7 T C PASS 1/1 41 STOP_LOST HIGH None 0.59924 0.59920 0.35908 None None None None None None None
View el-exome_s1 11 rs618838
dbSNP Clinvar
66328719 325.18 T C LowGQ;LowGQX 1/1 16 NON_SYNONYMOUS_CODING MODERATE None 0.60024 0.60020 0.36450 1.00 0.00 None None None None None None None
View el-exome_s1 11 rs2229456
dbSNP Clinvar
66328741 238.24 A C PASS 0/1 29 NON_SYNONYMOUS_CODING MODERATE None 0.16274 0.16270 0.15644 0.00 0.99 None None None None None None None
View el-exome_s1 11 rs1671064
dbSNP Clinvar
66327673 1036.22 G A PASS 1/1 43 NON_SYNONYMOUS_CODING MODERATE None 0.58646 0.58650 0.36660 1.00 0.00 None None None None None None None
View el-exome_s1 11 rs2229455
dbSNP Clinvar
66328055 108.07 A G PASS 0/1 16 SYNONYMOUS_CODING LOW None 0.16274 0.16270 0.15931 None None None None None None None
View el-exome_s1 11 rs540874
dbSNP Clinvar
66329732 2924.96 A G PASS 1/1 127 NON_SYNONYMOUS_CODING MODERATE None 0.58307 0.58310 0.37179 1.00 0.00 None None None None None None None
View el-exome_s1 11 rs77239910
dbSNP Clinvar
66329639 312.73 G A PASS 0/1 38 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.08047 0.08047 0.11645 None None None None None None None

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 el-exome_s1 11 rs948445
dbSNP Clinvar
67414492 141.13 C T LowGQ;LowGQX 1/1 8 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%

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 el-exome_s1 11 rs10548872
dbSNP Clinvar
130298117 250.91 GGCA G PASS 0/1 9 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.07728 0.47700 0.51250 None None None None None None ADAMTS8|0.042125202|65.07%
View el-exome_s1 11 rs7942034
dbSNP Clinvar
130297957 2513.57 T C PASS 1/1 100 SYNONYMOUS_CODING LOW None 0.91374 0.91370 0.11270 None None None None None None ADAMTS8|0.042125202|65.07%
View el-exome_s1 11 rs2131535
dbSNP Clinvar
130281488 394.02 G A PASS 0/1 34 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 el-exome_s1 11 rs7927048
dbSNP Clinvar
130297948 1165.98 C G PASS 0/1 111 NON_SYNONYMOUS_CODING MODERATE None 0.46925 0.46920 0.39489 0.56 0.01 None None None None None None ADAMTS8|0.042125202|65.07%

ADRBK1

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 el-exome_s1 11 rs2228418
dbSNP Clinvar
67034266 14.92 C A LowGQ;LowGQX 1/1 2 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.64876 0.64880 0.25747 None None None None None None ADRBK1|0.645969984|10.23%

AHNAK

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 el-exome_s1 11 rs486903
dbSNP Clinvar
62293948 859.34 G A PASS 0/1 73 SYNONYMOUS_CODING LOW None 0.47304 0.47300 0.44170 None None None None None None AHNAK|0.340600581|24.81%
View el-exome_s1 11 rs566144
dbSNP Clinvar
62292882 1973.16 G T PASS 1/1 77 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 1.00 0.00 None None None None None None AHNAK|0.340600581|24.81%
View el-exome_s1 11 rs11555628
dbSNP Clinvar
62284888 696.09 G A PASS 0/1 111 SYNONYMOUS_CODING LOW None 0.02057 0.02057 0.03584 None None None None None None AHNAK|0.340600581|24.81%

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 el-exome_s1 11 rs641081
dbSNP Clinvar
67257823 2184.09 C A PASS 1/1 90 NON_SYNONYMOUS_CODING MODERATE None 0.84545 0.84540 0.16574 1.00 0.00 None None None None None None AIP|0.191995289|37.6%
View el-exome_s1 11 rs4930199
dbSNP Clinvar
67258391 2074.25 A G PASS 1/1 86 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%

AKIP1

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 el-exome_s1 11 rs2016844
dbSNP Clinvar
8938934 271.16 C T PASS 0/1 59 None None None 0.26717 0.26720 0.27951 0.01 0.00 None None None None None None AKIP1|0.01527686|76.95%
View el-exome_s1 11 rs1133833
dbSNP Clinvar
8933064 619.54 G A PASS 0/1 71 NON_SYNONYMOUS_CODING MODERATE None 0.12061 0.12060 0.18627 0.22 0.09 None None None None None None AKIP1|0.01527686|76.95%

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 el-exome_s1 11 rs58160034,rs397695802
dbSNP Clinvar
67789293 848.46 G GC PASS 1/1 27 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 el-exome_s1 11 rs11433668,rs397777471
dbSNP Clinvar
67786064 1740.49 A AC PASS 1/1 42 None None None 1.00000 1.00000 0.00224 None None None None None None ALDH3B1|0.033093329|68.12%
View el-exome_s1 11 rs11436139,rs58238184
dbSNP Clinvar
67795378 242.79 G GC LowGQ;LowGQX 1/1 8 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.99980 0.99980 0.00424 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 el-exome_s1 11 rs2447571
dbSNP Clinvar
67432804 778.52 T C PASS 1/1 32 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%
View el-exome_s1 11 rs6591270
dbSNP Clinvar
67432854 1287.04 T C PASS 1/1 65 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 el-exome_s1 11 rs1551888
dbSNP Clinvar
67433869 1276.4 C T PASS 1/1 57 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 el-exome_s1 11 rs1551886
dbSNP Clinvar
67430762 2517.91 T C PASS 1/1 104 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%

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 el-exome_s1 11 rs10502151
dbSNP Clinvar
111724133 1035.63 C T PASS 0/1 125 NON_SYNONYMOUS_CODING MODERATE None 0.32648 0.32650 0.26369 0.06 0.79 None None None None None None ALG9|0.352156163|23.94%
View el-exome_s1 11 rs10708475
dbSNP Clinvar
111742145 3350.72 CG C PASS 1/1 75 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 el-exome_s1 11 rs2434478
dbSNP Clinvar
43911365 1578.88 T C PASS 1/1 68 SYNONYMOUS_CODING LOW None 0.99760 0.99760 0.00323 None None None None None None ALKBH3|0.085956572|53.95%
View el-exome_s1 11 rs1048928
dbSNP Clinvar
43940644 373.46 G T PASS 0/1 72 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.61621 0.61620 0.46456 None None None None None None ALKBH3|0.085956572|53.95%
View el-exome_s1 11 rs1130290
dbSNP Clinvar
43940602 713.79 C G PASS 0/1 53 NON_SYNONYMOUS_CODING MODERATE None 0.13898 0.13900 0.20575 0.02 0.78 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 el-exome_s1 11 rs645056
dbSNP Clinvar
107420530 1523.02 A G PASS 1/1 68 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 el-exome_s1 11 rs12419361
dbSNP Clinvar
44289071 861.59 G A PASS 0/1 64 SYNONYMOUS_CODING LOW None 0.10363 0.10360 0.08859 None None None None None None ALX4|0.690991356|8.75%
View el-exome_s1 11 rs10769028
dbSNP Clinvar
44297054 2852.36 T C PASS 1/1 116 SYNONYMOUS_CODING LOW None 0.99161 0.99160 0.00877 None None None None None None ALX4|0.690991356|8.75%
View el-exome_s1 11 rs12421995
dbSNP Clinvar
44331309 667.29 G A PASS 1/1 31 NON_SYNONYMOUS_CODING MODERATE None 0.37201 0.37200 0.54 0.00 None None None None None None ALX4|0.690991356|8.75%
View el-exome_s1 11 rs3824915
dbSNP Clinvar
44331509 2835.91 C G PASS 1/1 117 NON_SYNONYMOUS_CODING MODERATE None 0.47264 0.47260 0.42421 0.00 0.12 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 el-exome_s1 11 rs1793174
dbSNP Clinvar
118074337 1853.67 A G PASS 0/1 203 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%

AMOTL1

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 el-exome_s1 11 rs2303960
dbSNP Clinvar
94533373 980.33 C T PASS 1/1 43 SYNONYMOUS_CODING LOW None 0.26138 0.26140 0.17010 None None None None None None AMOTL1|0.091559982|52.93%

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 el-exome_s1 11 rs3741041
dbSNP Clinvar
10521764 2846.77 T C PASS 1/1 122 SYNONYMOUS_CODING LOW None 0.36741 0.36740 0.31447 None None None None None None AMPD3|0.504907229|15.58%

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 el-exome_s1 11 rs3858418
dbSNP Clinvar
101771248 3290.16 G A PASS 1/1 137 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 el-exome_s1 11 rs11604671
dbSNP Clinvar
113268059 1024.31 G A PASS 1/1 46 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 el-exome_s1 11 rs4938013
dbSNP Clinvar
113264470 737.15 A C PASS 1/1 25 SYNONYMOUS_CODING LOW None 0.66054 0.66050 0.28420 None None None None None None ANKK1|0.031328783|68.87%
View el-exome_s1 11 rs4938016
dbSNP Clinvar
113270015 1047.08 G C PASS 1/1 39 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 el-exome_s1 11 rs17115439
dbSNP Clinvar
113264272 2051.06 T C PASS 1/1 83 SYNONYMOUS_CODING LOW None 0.52596 0.52600 0.39937 None None None None None None ANKK1|0.031328783|68.87%
View el-exome_s1 11 rs2734849
dbSNP Clinvar
113270160 1671.41 A G PASS 1/1 72 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 el-exome_s1 11 rs2734848
dbSNP Clinvar
113270374 883.28 C T PASS 1/1 33 SYNONYMOUS_CODING LOW None 0.00060 0.00060 0.24391 None None None None None None ANKK1|0.031328783|68.87%
View el-exome_s1 11 rs34298987
dbSNP Clinvar
113269792 1207.38 C A PASS 0/1 115 NON_SYNONYMOUS_CODING MODERATE None 0.00799 0.00799 0.02071 0.00 1.00 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 el-exome_s1 11 rs2298815
dbSNP Clinvar
67068859 180.2 T C LowGQ;LowGQX 1/1 8 SYNONYMOUS_CODING LOW None 0.89477 0.89480 0.09199 None None None None None None ANKRD13D|0.070594446|57.34%

ANKRD42

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 el-exome_s1 11 rs755322571
dbSNP Clinvar
82947464 855.03 T C PASS 0/1 72 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.69 None None None None None None ANKRD42|0.200143313|36.74%
View el-exome_s1 11 rs77693567
dbSNP Clinvar
82956580 766.62 G T PASS 0/1 78 SYNONYMOUS_CODING LOW None 0.01997 0.01997 None None None None None None ANKRD42|0.200143313|36.74%

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 el-exome_s1 11 rs2509943
dbSNP Clinvar
94231257 42.05 C G PASS 0/1 6 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 el-exome_s1 11 rs2276067
dbSNP Clinvar
70007392 1158.6 A G PASS 0/1 159 SYNONYMOUS_CODING LOW None 0.65815 0.65810 0.36090 None None None None None None ANO1|0.129436977|45.95%
View el-exome_s1 11 rs2276066
dbSNP Clinvar
70007311 948.16 A G PASS 0/1 106 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 el-exome_s1 11 rs10835051
dbSNP Clinvar
26677947 379.16 C T PASS 0/1 66 SYNONYMOUS_CODING LOW None 0.55851 0.55850 0.43894 None None None None None None ANO3|0.315688772|26.37%
View el-exome_s1 11 rs2663168
dbSNP Clinvar
26568966 317.05 A G PASS 0/1 50 SYNONYMOUS_CODING LOW None 0.67512 0.67510 0.34930 None None None None None None ANO3|0.315688772|26.37%
View el-exome_s1 11 rs7946841
dbSNP Clinvar
26656563 916.19 C T PASS 0/1 97 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 el-exome_s1 11 rs4312063
dbSNP Clinvar
22242729 3322.9 T C PASS 1/1 138 SYNONYMOUS_CODING LOW None 0.78994 0.78990 0.15557 None None None None None None ANO5|0.057436384|60.57%
View el-exome_s1 11 rs7481951
dbSNP Clinvar
22271870 902.83 A T PASS 1/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.44864 0.11 0.02 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 el-exome_s1 11 rs10794323
dbSNP Clinvar
428385 692.16 A G PASS 1/1 29 NON_SYNONYMOUS_CODING MODERATE None 0.92173 0.92170 0.15092 0.40 0.00 None None None None None None ANO9|0.005315208|85.4%
View el-exome_s1 11 rs7395065
dbSNP Clinvar
433387 658.3 A G PASS 1/1 30 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 el-exome_s1 11 rs10794324
dbSNP Clinvar
428489 723.66 T C PASS 1/1 31 NON_SYNONYMOUS_CODING MODERATE None 0.91893 0.91890 0.16818 1.00 0.00 None None None None None None ANO9|0.005315208|85.4%

AP000679.2

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 el-exome_s1 11 rs7949789
dbSNP Clinvar
120041110 469.04 T A PASS 0/1 68 NON_SYNONYMOUS_CODING MODERATE None 0.34924 0.34920 0.89 None None None None None None TRIM29|0.057405757|60.58%
View el-exome_s1 11 rs4936509
dbSNP Clinvar
120041444 276.25 C T PASS 0/1 32 SYNONYMOUS_CODING LOW None 0.50020 0.50020 None None None None None None TRIM29|0.057405757|60.58%

AP000783.1

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 el-exome_s1 11 rs17671708
dbSNP Clinvar
123306172 684.76 T C PASS 0/1 80 SYNONYMOUS_CODING LOW None 0.09385 0.09385 None None None None None None None

AP000974.1

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 el-exome_s1 11 rs370928321
dbSNP Clinvar
85564132 58.3 C T LowGQ;LowGQX 1/1 4 SYNONYMOUS_CODING LOW None 0.00699 0.00699 None None None None None None None

AP001024.2

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 el-exome_s1 11 rs60511673
dbSNP Clinvar
107643289 155.85 T G PASS 0/1 15 NON_SYNONYMOUS_CODING MODERATE None 0.66753 0.66750 1.00 0.51 None None None None None None None

AP003062.1

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 el-exome_s1 11 rs879102906
dbSNP Clinvar
134855517 388.12 T C LowQD 0/1 679 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None None
View el-exome_s1 11 rs567001556
dbSNP Clinvar
134855496 2323.69 C G PASS 0/1 619 NON_SYNONYMOUS_CODING MODERATE None 0.20 0.00 None None None None None None None
View el-exome_s1 11 rs376552138
dbSNP Clinvar
134855566 755.84 C G LowMQ;LowQD 0/1 630 NON_SYNONYMOUS_CODING MODERATE None 0.10903 0.10900 0.14 0.00 None None None None None None None

AP003068.23

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 el-exome_s1 11 rs3953797
dbSNP Clinvar
64948277 661.03 A C PASS 0/1 81 NON_SYNONYMOUS_CODING MODERATE None 0.29812 0.29810 0.78 0.00 None None None None None None CAPN1|0.25211602|31.37%

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 el-exome_s1 11 rs10794358
dbSNP Clinvar
985547 497.57 C T PASS 0/1 73 SYNONYMOUS_CODING LOW None 0.46106 0.46110 0.44776 None None None None None None AP2A2|0.023484891|72.44%
View el-exome_s1 11 rs72842410
dbSNP Clinvar
1010649 536.38 C T PASS 0/1 95 None None None 0.16673 0.16670 0.09533 0.26 0.00 None None None None None None AP2A2|0.023484891|72.44%

AP5B1

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 el-exome_s1 11 rs12362011
dbSNP Clinvar
65547455 343.2 C A PASS 0/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.14018 0.14020 0.11367 0.04 0.73 None None None None None None AP5B1|0.021769875|73.29%
View el-exome_s1 11 rs12146493
dbSNP Clinvar
65547333 3.07 G A LowGQX;LowQD;SB 0/1 4 NON_SYNONYMOUS_CODING MODERATE None 0.30371 0.30370 0.35035 0.00 0.17 None None None None None None AP5B1|0.021769875|73.29%
View el-exome_s1 11 rs610037
dbSNP Clinvar
65546857 77.78 A C PASS 0/1 10 SYNONYMOUS_CODING LOW None 0.45387 0.45390 0.43501 None None None None None None AP5B1|0.021769875|73.29%

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 el-exome_s1 11 rs2986429
dbSNP Clinvar
34918375 953.42 A G PASS 0/1 138 NON_SYNONYMOUS_CODING MODERATE None 0.65036 0.65040 0.46 0.00 None None None None None None APIP|0.209674362|35.61%
View el-exome_s1 11 rs2956114
dbSNP Clinvar
34937813 1090.47 G A PASS 0/1 103 START_GAINED LOW None 0.43470 0.43470 0.31670 0.02 0.08 None None None None None None APIP|0.209674362|35.61%,PDHX|0.779810523|6.33%
View el-exome_s1 11 rs1571133
dbSNP Clinvar
34909926 532.82 T G PASS 0/1 48 SYNONYMOUS_CODING LOW None 0.57947 0.57950 0.40185 None None None None None None APIP|0.209674362|35.61%
View el-exome_s1 11 rs1977420
dbSNP Clinvar
34910397 7.08 C T LowGQ;LowGQX;SB 1/1 1 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 el-exome_s1 11 rs948847
dbSNP Clinvar
57004344 752.12 G T PASS 1/1 29 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 el-exome_s1 11 rs5104
dbSNP Clinvar
116692334 304.03 C T LowGQ;LowGQX 1/1 9 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 el-exome_s1 11 rs5092
dbSNP Clinvar
116693464 3404.95 C T PASS 1/1 137 SYNONYMOUS_CODING LOW None 0.71985 0.71980 0.16146 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 el-exome_s1 11 rs4520
dbSNP Clinvar
116701535 1304.84 T C PASS 1/1 56 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 el-exome_s1 11 rs12805218
dbSNP Clinvar
72396990 473.99 G A PASS 1/1 14 None None None 0.41354 0.41350 None None None None None None ARAP1|0.193135923|37.51%
View el-exome_s1 11 rs2291289
dbSNP Clinvar
72408657 286.78 C T PASS 0/1 72 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 el-exome_s1 11 rs11216925
dbSNP Clinvar
118471423 2233.29 T C PASS 1/1 94 SYNONYMOUS_CODING LOW None 0.28035 0.28040 0.14865 None None None None None None ARCN1|0.675421925|9.21%