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Genes:
AAMDC, ABCC8, ACAT1, ACCS, ACCSL, ACER3, ACP2, ACY3, ADAMTS15, ADAMTS8, AIP, ALDH3B1, ALDH3B2, ALG8, ALG9, ALKBH3, ALKBH8, ALX4, AMBRA1, AMICA1, AMOTL1, AMPD3, ANGPTL5, ANKK1, ANKRD49, ANO1, ANO3, ANO5, ANO9, AP2A2, APIP, APLNR, APOA4, APOC3, ARAP1, ARFGAP2, ARHGAP1, ARHGAP32, ARHGAP42, ARHGEF12, ARL2, ARRB1, ART1, ART5, ASCL3, ATG2A, ATHL1, ATM, B4GALNT4, BACE1, BBOX1, BCO2, BDNF, BEST1, BRMS1, BSCL2, BTG4, C11orf1, C11orf16, C11orf21, C11orf24, C11orf30, C11orf35, C11orf40, C11orf45, C11orf49, C11orf52, C11orf68, C11orf94, C2CD3, CABP2, CALCA, CAPN1, CARNS1, CASP12, CASP4, CASP5, CATSPER1, CCDC179, CCDC34, CCDC67, CCDC73, CCDC81, CCDC83, CCDC86, CCDC88B, CCDC90B, CCKBR, CCND1, CD151, CD3E, CD44, CD5, CD6, CDC42BPG, CDHR5, CDK2AP2, CDON, CEP164, CHEK1, CHID1, CHORDC1, CHRDL2, CHST1, CLCF1, CLPB, CNGA4, CNTN5, COLCA2, COPB1, CPSF7, CPT1A, CREB3L1, CRTAM, CRYAB, CST6, CTNND1, CTR9, CTSC, CTSW, CTTN, CWC15, CWF19L2, CXCR5, CYB5R2, CYP2R1, DAGLA, DAK, DCDC1, DCHS1, DCPS, DDB1, DDB2, DDI1, DEAF1, DEFB108B, DENND5A, DGKZ, DHCR7, DIXDC1, DKK3, DLAT, DNAJB13, DNHD1, DPAGT1, DRD2, DSCAML1, DTX4, DYNC2H1, EEF1G, EFCAB4A, EFEMP2, EHBP1L1, EHD1, EI24, EIF1AD, EIF3F, EIF4G2, ELF5, EML3, ENDOD1, EPS8L2, ETS1, EXPH5, FADS3, FAM111A, FAM118B, FAM160A2, FAM180B, FAM181B, FAM86C1, FANCF, FAT3, FDXACB1, FKBP2, FLI1, FLRT1, FNBP4, FOLH1, FOSL1, FRMD8, FSHB, GAB2, GAL3ST3, GALNT18, GAS2, GDPD4, GDPD5, GIF, GLB1L2, GLB1L3, GLYAT, GRAMD1B, GRIK4, GRM5, GUCY1A2, GYLTL1B, HBB, HEPACAM, HEPHL1, HEPN1, HINFP, HMBS, HPS5, HRAS, HSD17B12, HTATIP2, HTR3B, HYOU1, IFITM1, IFITM2, IGHMBP2, IGSF22, IGSF9B, IL10RA, IL18, ILK, INCENP, INS, INS-IGF2, INSC, INTS4, IPO7, IRF7, KCNA4, KCNE3, KCNJ11, KCNJ5, KCNK4, KCTD14, KDM2A, KDM4E, KIAA1377, KIAA1549L, KIAA1731, KIF18A, KIRREL3, KRTAP5-3, KRTAP5-4, KRTAP5-5, KRTAP5-8, LAYN, LDHA, LDHC, LDLRAD3, LGALS12, LGR4, LIPT2, LMO1, LMO2, LPXN, LRFN4, LRP4, LRP5, LRRC56, LSP1, LUZP2, MACROD1, MADD, MAML2, MAP3K11, MAP6, MCAM, MDK, ME3, MED17, MEN1, METTL12, METTL15, MFRP, MICAL2, MICALCL, MMP1, MMP20, MMP27, MMP7, MMP8, MOB2, MOGAT2, MPZL3, MRGPRD, MRGPRE, MRGPRF, MRGPRG, MRGPRX1, MRGPRX3, MRGPRX4, MRVI1, MS4A1, MS4A12, MS4A13, MS4A14, MS4A15, MS4A3, MS4A4A, MS4A6A, MS4A6E, MUC15, MUC2, MUC5B, MUC6, MYBPC3, MYO7A, NAA40, NAALAD2, NADSYN1, NARS2, NAT10, NAV2, NCAM1, NCAPD3, NCR3LG1, NDUFC2, NELL1, NEU3, NFRKB, NLRP14, NLRP6, NLRX1, NOX4, NPAT, NRXN2, NTM, NUCB2, NUDT22, NUDT8, NUP160, NXF1, NXPE1, NXPE2, NXPE4, OAF, OR10A2, OR10A6, OR10G4, OR10G7, OR10G9, OR10Q1, OR10V1, OR10W1, OR1S1, OR1S2, OR2AG1, OR2AG2, OR2D2, OR2D3, OR4A15, OR4A16, OR4A5, OR4B1, OR4C11, OR4C12, OR4C13, OR4C15, OR4C16, OR4C3, OR4C46, OR4D6, OR4S1, OR4X1, OR51A4, OR51A7, OR51B2, OR51B4, OR51B5, OR51B6, OR51E1, OR51E2, OR51F1, OR51G1, OR51G2, OR51I1, OR51I2, OR51L1, OR51M1, OR51S1, OR51V1, OR52A1, OR52A5, OR52B2, OR52B4, OR52B6, OR52D1, OR52E2, OR52E4, OR52E8, OR52H1, OR52I1, OR52I2, OR52K2, OR52L1, OR52M1, OR52N1, OR52N2, OR52N4, OR52R1, OR52W1, OR56A1, OR56A3, OR56A4, OR56B1, OR56B4, OR5A1, OR5A2, OR5AK2, OR5AR1, OR5AS1, OR5B12, OR5B17, OR5B2, OR5D13, OR5D14, OR5D16, OR5D18, OR5F1, OR5J2, OR5M1, OR5M10, OR5M11, OR5M3, OR5P2, OR5P3, OR5R1, OR5T1, OR5T2, OR5W2, OR6A2, OR6M1, OR6Q1, OR6T1, OR6X1, OR8A1, OR8B3, OR8B4, OR8B8, OR8D1, OR8D2, OR8D4, OR8G1, OR8G5, OR8H2, OR8H3, OR8J1, OR8J3, OR8K1, OR8K3, OR8U1, OR9G1, OR9G4, OR9Q2, OSBPL5, OVCH2, P2RX3, P2RY2, PAFAH1B2, PAMR1, PANX1, PANX3, PCF11, PCNXL3, PDDC1, PDE2A, PDE3B, PDHX, PDZD3, PEX16, PGM2L1, PGR, PHLDA2, PHRF1, PICALM, PIDD, PIK3C2A, PITPNM1, PIWIL4, PKNOX2, PKP3, PLCB3, PLEKHA7, PNPLA2, POLD3, POLR2L, POU2AF1, POU2F3, PPFIA1, PPFIBP2, PPP1R32, PRDM10, PRDX5, PRG2, PRG3, PRKCDBP, PRMT3, PRR5L, PRRG4, PSMD13, PTDSS2, PTGDR2, PTPN5, PTPRJ, PVRL1, RAB38, RAPSN, RARRES3, RBMXL2, RCN1, RCOR2, RHOD, RIC3, RIN1, RNF141, RNF169, RNF26, RNH1, ROBO3, ROBO4, ROM1, RPL27A, RPS6KA4, RPS6KB2, RPUSD4, RRM1, RRP8, RSF1, RTN3, SAA1, SAA2, SAA4, SAAL1, SART1, SBF2, SCGB1C1, SCGB1D1, SCUBE2, SERPINH1, SHANK2, SIGIRR, SIPA1, SIRT3, SLC15A3, SLC22A10, SLC22A12, SLC22A18, SLC22A24, SLC22A25, SLC22A8, SLC25A22, SLC25A45, SLC37A2, SLC39A13, SLC5A12, SLC6A5, SMCO4, SMPD1, SMTNL1, SNX15, SNX19, SNX32, SORL1, SPATA19, SPTBN2, SPTY2D1, SRSF8, ST14, ST3GAL4, ST5, STIM1, STK33, SUV420H1, SWAP70, SYT8, SYT9, SYTL2, TAF10, TBC1D10C, TBX10, TCIRG1, TCP11L1, TEAD1, TECTA, TENM4, TEX12, TH, TIRAP, TM7SF2, TMEM109, TMEM132A, TMEM135, TMEM136, TMEM216, TMEM225, TMEM262, TMEM80, TMPRSS13, TMPRSS4, TMPRSS5, TNNI2, TNNT3, TOLLIP, TPCN2, TPP1, TREH, TRIM22, TRIM29, TRIM3, TRIM48, TRIM49, TRIM49B, TRIM5, TRIM51, TRIM6, TRIM64C, TRIM66, TRIM77, TRPC6, TRPM5, TSGA10IP, TSPAN18, TSPAN32, TSPAN4, TSSC4, TTC36, TTC9C, TYR, UBASH3B, UBE4A, UBQLN3, UBQLNL, UCP2, UCP3, UNC93B1, USH1C, USP2, USP28, USP35, USP47, VPS11, VPS37C, VWA5A, WEE1, WNT11, WT1, XRRA1, ZBTB16, ZBTB3, ZDHHC13, ZDHHC5, ZFP91, ZNF143, ZNF202, ZNF214, ZNF215, ZNHIT2, ZP1,

Genes at Omim

ABCC8, ACAT1, ACER3, ACP2, AIP, ALG8, ALG9, ALX4, AMPD3, ANO3, ANO5, APOC3, ATM, BEST1, BSCL2, C2CD3, CABP2, CAPN1, CASP12, CATSPER1, CCND1, CD151, CD3E, CD44, CDON, CEP164, CLCF1, CLPB, CPT1A, CREB3L1, CRYAB, CTNND1, CTSC, CYP2R1, DCHS1, DCPS, DDB2, DEAF1, DENND5A, DHCR7, DLAT, DNAJB13, DPAGT1, DYNC2H1, EFEMP2, EIF3F, EPS8L2, EXPH5, FAM111A, FANCF, FLI1, FSHB, GIF, HBB, HEPACAM, HMBS, HPS5, HRAS, HYOU1, IGHMBP2, IL10RA, INS, IRF7, KCNA4, KCNE3, KCNJ11, KCNJ5, LDHA, LGR4, LIPT2, LMO1, LMO2, LRP4, LRP5, LRRC56, MAML2, MED17, MEN1, MFRP, MMP1, MMP20, MS4A1, MUC5B, MYBPC3, MYO7A, NARS2, NCAPD3, NUP160, PDHX, PEX16, PGR, PICALM, PNPLA2, PTPRJ, RAPSN, ROBO3, ROM1, SBF2, SERPINH1, SHANK2, SLC22A12, SLC25A22, SLC39A13, SLC6A5, SMPD1, SPTBN2, ST14, STIM1, TCIRG1, TEAD1, TECTA, TENM4, TH, TIRAP, TMEM216, TNNI2, TNNT3, TPCN2, TPP1, TREH, TRPC6, TYR, UCP2, UCP3, UNC93B1, USH1C, VPS11, WT1, ZBTB16, 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)
ALG8 Congenital disorder of glycosylation, type Ih, 608104 (3)
Polycystic liver disease 3 with or without kidney cysts, 617874 (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)
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)
C2CD3 ?Orofaciodigital syndrome XIV, 615948 (3)
CABP2 Deafness, autosomal recessive 93, 614899 (3)
CAPN1 Spastic paraplegia 76, autosomal recessive, 616907 (3)
CASP12 {Sepsis, susceptibility to} (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)
CD3E Immunodeficiency 18, 615615 (3)
Immunodeficiency 18, SCID variant, 615615 (3)
CD44 [Blood group, Indian system], 609027 (3)
CDON Holoprosencephaly 11, 614226 (3)
CEP164 Nephronophthisis 15, 614845 (3)
CLCF1 Cold-induced sweating syndrome 2, 610313 (3)
CLPB 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271 (3)
CPT1A CPT deficiency, hepatic, type IA, 255120 (3)
CREB3L1 Osteogenesis imperfecta, type XVI, 616229 (3)
CRYAB Cardiomyopathy, dilated, 1II, 615184 (3)
Cataract 16, multiple types, 613763 (3)
Myopathy, myofibrillar, 2, 608810 (3)
Myopathy, myofibrillar, fatal infantile hypertonic, alpha-B crystallin-related, 613869 (3)
CTNND1 Blepharocheilodontic syndrome 2, 617681 (3)
CTSC Haim-Munk syndrome, 245010 (3)
Papillon-Lefevre syndrome, 245000 (3)
Periodontitis 1, juvenile, 170650 (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)
DENND5A Epileptic encephalopathy, early infantile, 49, 617281 (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)
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)
FANCF Fanconi anemia, complementation group F, 603467 (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)
HRAS Bladder cancer, somatic, 109800 (3)
Congenital myopathy with excess of muscle spindles, 218040 (3)
Costello syndrome, 218040 (3)
Nevus sebaceous or woolly hair nevus, somatic, 162900 (3)
Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3)
Spitz nevus or nevus spilus, somatic, 137550 (3)
Thyroid carcinoma, follicular, somatic, 188470 (3)
HYOU1 ?Immunodeficiency 59 and hypoglycemia, 233600 (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)
KCNA4 Microcephaly, cataracts, impaired intellectual development, and dystonia with abnormal striatum, 618284 (3)
KCNE3 ?Brugada syndrome 6, 613119 (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)
MS4A1 Immunodeficiency, common variable, 5, 613495 (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)
NARS2 Combined oxidative phosphorylation deficiency 24, 616239 (3)
NCAPD3 Microcephaly 22, primary, autosomal recessive, 617984 (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)
PTPRJ Colon cancer, somatic, 114500 (3)
RAPSN Fetal akinesia deformation sequence, 208150 (3)
Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326 (3)
ROBO3 Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 (3)
ROM1 Retinitis pigmentosa 7, digenic form, 608133 (3)
SBF2 Charcot-Marie-Tooth disease, type 4B2, 604563 (3)
SERPINH1 {Preterm premature rupture of the membranes, susceptibility to}, 610504 (3)
Osteogenesis imperfecta, type X, 613848 (3)
SHANK2 {Autism susceptibility 17}, 613436 (3)
SLC22A12 Hypouricemia, renal, 220150 (3)
SLC25A22 Epileptic encephalopathy, early infantile, 3, 609304 (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)
TEAD1 Sveinsson chorioretinal atrophy, 108985 (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)
TNNT3 Arthrogryposis, 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)
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)
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)
WT1 Frasier syndrome, 136680 (3)
Denys-Drash syndrome, 194080 (3)
Meacham syndrome, 608978 (3)
Mesothelioma, somatic, 156240 (3)
Nephrotic syndrome, type 4, 256370 (3)
Wilms tumor, type 1, 194070 (3)
ZBTB16 Leukemia, acute promyelocytic, PL2F/RARA type (3)
Skeletal defects, genital hypoplasia, and mental retardation, 612447 (3)
ZP1 Oocyte maturation defect 1, 615774 (3)

Genes at Clinical Genomics Database

ABCC8, ACAT1, AIP, ALG8, ALG9, ALX4, AMPD3, ANO3, ANO5, APOC3, ATM, BDNF, BEST1, BSCL2, C2CD3, CABP2, CAPN1, CD151, CD3E, CD44, CDON, CEP164, CLCF1, CLPB, CPT1A, CREB3L1, CRYAB, CTSC, CYP2R1, DCHS1, DCPS, DDB2, DEAF1, DHCR7, DLAT, DPAGT1, DRD2, DYNC2H1, EFEMP2, EXPH5, FAM111A, FANCF, FLI1, FSHB, GIF, GRIK4, HBB, HEPACAM, HMBS, HPS5, HRAS, IGHMBP2, IL10RA, INS, IRF7, KCNE3, KCNJ11, KCNJ5, KIRREL3, LDHA, LRP4, LRP5, MED17, MEN1, MFRP, MMP20, MS4A1, MYBPC3, MYO7A, NARS2, NPAT, PDHX, PEX16, PNPLA2, RAPSN, ROBO3, ROM1, SBF2, SERPINH1, SHANK2, SLC22A12, SLC25A22, SLC39A13, SLC6A5, SMPD1, SPTBN2, ST14, STIM1, TCIRG1, TEAD1, TECTA, TENM4, TH, TMEM216, TNNI2, TNNT3, TPCN2, TPP1, TRPC6, TYR, UNC93B1, USH1C, VPS11, WT1, ZBTB16, 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
ALG8 Congenital disorder of glycosylation, type Ih
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
C2CD3 Orofaciodigital syndrome XIV
CABP2 Deafness, autosomal recessive 93
CAPN1 Spastic paraplegia 76, autosomal recessive
CD151 Raph blood group
CD3E Immunodeficiency 18
CD44 Blood group, Indian
CDON Holoprosencephaly 11
CEP164 Nephronophthisis 15
CLCF1 Cold-induced sweating syndrome 2
CLPB 3-methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia (MEGCANN)
CPT1A Carnitine palmitoyltransferase deficiency I
CREB3L1 Osteogenesis imperfecta, type XVI
CRYAB Myopathy, myofibrillar, 2
Cardiomyopathy, dilated, 1II
Congenital cataract and cardiomyopathy
Cataract, myofibrillar myopathy and cardiomyopathy
CTSC Haim-Munk syndrome
Papillon-Lefevre syndrome
Periodontitis 1, juvenile
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
FANCF Fanconia anemia, complementation group F
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
HRAS Costello syndrome
Congenital myopathy with excess of muscle spindles
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
KCNE3 Brugada syndrome 6
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
MS4A1 Immunodeficiency, common variable, 5
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
RAPSN Myasthenic syndrome, congenital 11, associated with acetylcholine receptor deficiency
ROBO3 Gaze palsy, horizontal, with progressive scoliosis
ROM1 Retinitis pigmentosa 7, digenic
SBF2 Charcot-Marie-Tooth disease, type 4B2 with early-onset glaucoma
SERPINH1 Osteogenesis imperfecta, type X
SHANK2 Autism, susceptibility to 17
SLC22A12 Hypouricemia, renal 1
SLC25A22 Epileptic encephalopathy, early infantile, 3
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
TEAD1 Sveinsson choreoretinal atrophy
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
TNNT3 Arthyrgryposis, 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
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
WT1 Denys-Drash syndrome
Wilms tumor, type 1
Frasier syndrome
ZBTB16 Skeletal defects, genital hypoplasia, and mental retardation
ZP1 Oocyte maturation defect 1

Genes at HGMD

Summary

Number of Variants: 2495
Number of Genes: 654

Export to: CSV

AAMDC

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWI 11 rs585721
dbSNP Clinvar
77553638 751.04 T C PASS 1/1 86 SYNONYMOUS_CODING LOW None 0.39078 0.39080 0.42036 None None None None None None AAMDC|0.466531332|17.33%

ABCC8

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWI 11 . 17449860 248.93 G A PASS 0/1 63 SYNONYMOUS_CODING LOW None None None None None None None ABCC8|0.967482639|1.79%
View allfamilies AWI 11 rs1048099
dbSNP Clinvar
17496516 2137.48 A G PASS 0/1 200 SYNONYMOUS_CODING LOW None 0.43930 0.43930 0.47682 None None None None None None ABCC8|0.967482639|1.79%
View allfamilies AWI 11 rs1799857
dbSNP Clinvar
17452492 3815.75 G A PASS 0/1 404 SYNONYMOUS_CODING LOW None 0.42991 0.42990 0.45873 None None None None None None ABCC8|0.967482639|1.79%
View allfamilies AWI 11 rs8192690
dbSNP Clinvar
17414570 332.711 C T PASS 0/1 124 NON_SYNONYMOUS_CODING MODERATE None 0.03115 0.03115 0.05544 0.57 0.00 None None None None None None ABCC8|0.967482639|1.79%
View allfamilies AWI 11 rs757110
dbSNP Clinvar
17418477 3613.9 C A PASS 1/1 211 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%

ACAT1

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWI 11 rs35188041
dbSNP Clinvar
108009660 98.9532 C A PASS 0/1 31 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.12700 0.12700 0.18180 None None None None None None ACAT1|0.138678583|44.58%

ACCS

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View allfamilies AWI 11 rs3107275
dbSNP Clinvar
44104981 940.79 C T PASS 0/1 42 NON_SYNONYMOUS_CODING MODERATE None 0.40375 0.40380 0.41512 0.23 0.03 None None None None None None ACCS|0.034927707|67.49%
View allfamilies AWI 11 rs7950395
dbSNP Clinvar
44101118 418.92 C T PASS 0/1 99 SYNONYMOUS_CODING LOW None 0.11422 0.11420 0.13063 None None None None None None ACCS|0.034927707|67.49%

ACCSL

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View allfamilies AWI 11 rs2074051
dbSNP Clinvar
44080210 1667.27 T C PASS 0/1 76 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

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View allfamilies AWI 11 rs4479014
dbSNP Clinvar
76637680 1570.43 G A PASS 0/1 77 SYNONYMOUS_CODING LOW None 0.50379 0.50380 0.41728 None None None None None None ACER3|0.282744715|28.9%
View allfamilies AWI 11 rs4379869
dbSNP Clinvar
76637651 1574.54 G A PASS 0/1 81 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 allfamilies AWI 11 rs3740767
dbSNP Clinvar
76701606 721.091 G A PASS 1/1 60 SYNONYMOUS_CODING LOW None 0.53295 0.53290 0.40072 None None None None None None ACER3|0.282744715|28.9%

ACP2

Omim - GeneCards - NCBI
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View allfamilies AWI 11 rs2167079
dbSNP Clinvar
47270255 926.34 C T PASS 0/1 102 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%
View allfamilies AWI 11 rs10838677
dbSNP Clinvar
47267079 347.72 C T PASS 0/1 79 SYNONYMOUS_CODING LOW None 0.04892 0.04892 0.03154 None None None None None None ACP2|0.186646535|38.21%
View allfamilies AWI 11 rs4752973
dbSNP Clinvar
47269159 908.39 T C PASS 0/1 107 None None None 0.41114 0.41110 0.26443 None None None None None None ACP2|0.186646535|38.21%

ACY3

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View allfamilies AWI 11 rs948445
dbSNP Clinvar
67414492 804.69 C T PASS 1/1 83 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%

ADAMTS15

Omim - GeneCards - NCBI
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View allfamilies AWI 11 rs111287791
dbSNP Clinvar
130343566 885.82 C A PASS 0/1 394 SYNONYMOUS_CODING LOW None 0.00060 0.00060 0.00093 None None None None None None ADAMTS15|0.184066185|38.46%

ADAMTS8

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWI 11 rs11222085
dbSNP Clinvar
130275749 250.9 T C PASS 0/1 152 NON_SYNONYMOUS_CODING MODERATE None 0.08387 0.08387 0.13278 0.13 0.01 None None None None None None ADAMTS8|0.042125202|65.07%
View allfamilies AWI 11 rs7942034
dbSNP Clinvar
130297957 1423.99 T C PASS 1/1 89 SYNONYMOUS_CODING LOW None 0.91374 0.91370 0.11270 None None None None None None ADAMTS8|0.042125202|65.07%
View allfamilies AWI 11 rs7927048
dbSNP Clinvar
130297948 1442.13 C G PASS 0/1 90 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%
View allfamilies AWI 11 rs2131535
dbSNP Clinvar
130281488 2045.85 G A PASS 1/1 150 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%

AIP

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View allfamilies AWI 11 rs641081
dbSNP Clinvar
67257823 1805.96 C A PASS 1/1 151 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 allfamilies AWI 11 rs4930199
dbSNP Clinvar
67258391 1102.56 A G PASS 1/1 78 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

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWI 11 rs11436139,rs58238184
dbSNP Clinvar
67795378 993.718 G GC PASS 1/1 77 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 allfamilies AWI 11 rs58160034,rs397695802
dbSNP Clinvar
67789293 2777.73 G GC PASS 1/1 169 FRAME_SHIFT+SPLICE_SITE_REGION HIGH None 0.00280 0.99720 0.00024 None None None None None None ALDH3B1|0.033093329|68.12%

ALDH3B2

Omim - GeneCards - NCBI
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View allfamilies AWI 11 rs2447571
dbSNP Clinvar
67432804 2026.96 T C PASS 1/1 174 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 allfamilies AWI 11 rs1551888
dbSNP Clinvar
67433869 471.95 C T PASS 1/1 37 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 allfamilies AWI 11 rs1551886
dbSNP Clinvar
67430762 1415.4 T C PASS 1/1 120 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 allfamilies AWI 11 rs6591270
dbSNP Clinvar
67432854 1803.44 T C PASS 1/1 156 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%

ALG8

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWI 11 rs665278
dbSNP Clinvar
77825320 135.85 T C PASS 0/1 39 NON_SYNONYMOUS_CODING MODERATE None 0.14637 0.14640 0.17653 0.54 0.00 None None None None None None ALG8|0.271828489|29.77%

ALG9

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWI 11 rs10502151
dbSNP Clinvar
111724133 262.34 C T PASS 0/1 73 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 allfamilies AWI 11 rs10708475
dbSNP Clinvar
111742145 1228.93 CG C PASS 1/1 108 FRAME_SHIFT HIGH None 1.00000 1.00000 0.00040 None None None None None None ALG9|0.352156163|23.94%

ALKBH3

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View allfamilies AWI 11 rs2434478
dbSNP Clinvar
43911365 2210.08 T C PASS 1/1 93 SYNONYMOUS_CODING LOW None 0.99760 0.99760 0.00323 None None None None None None ALKBH3|0.085956572|53.95%
View allfamilies AWI 11 rs1048928
dbSNP Clinvar
43940644 518.66 G T PASS 0/1 80 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.61621 0.61620 0.46456 None None None None None None ALKBH3|0.085956572|53.95%

ALKBH8

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWI 11 rs645056
dbSNP Clinvar
107420530 1160.97 A G PASS 1/1 73 SYNONYMOUS_CODING LOW None 0.71146 0.71150 0.22383 None None None None None None ALKBH8|0.091746155|52.88%

ALX4

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWI 11 rs10769028
dbSNP Clinvar
44297054 3853.52 T C PASS 1/1 315 SYNONYMOUS_CODING LOW None 0.99161 0.99160 0.00877 None None None None None None ALX4|0.690991356|8.75%
View allfamilies AWI 11 rs3824915
dbSNP Clinvar
44331509 1229.53 C G PASS 0/1 97 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%

AMBRA1

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWI 11 . 46564496 20.58 T C PASS 0/1 81 SYNONYMOUS_CODING LOW None None None None None None None AMBRA1|0.69937554|8.5%

AMICA1

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWI 11 rs2298831
dbSNP Clinvar
118068752 375.207 T C PASS 0/1 81 NON_SYNONYMOUS_CODING MODERATE None 0.20387 0.20390 0.22202 0.12 0.00 None None None None None None AMICA1|0.006975482|83.52%
View allfamilies AWI 11 rs17121881
dbSNP Clinvar
118081345 1374.19 A T PASS 0/1 125 NON_SYNONYMOUS_CODING MODERATE None 0.46745 0.46750 0.44735 0.00 0.70 None None None None None None AMICA1|0.006975482|83.52%
View allfamilies AWI 11 rs1793174
dbSNP Clinvar
118074337 1355.29 A G PASS 1/1 72 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWI 11 rs758010632
dbSNP Clinvar
94533238 283.83 C T PASS 0/1 93 SYNONYMOUS_CODING LOW None None None None None None None AMOTL1|0.091559982|52.93%

AMPD3

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWI 11 rs75283041
dbSNP Clinvar
10514916 429.43 G A PASS 0/1 186 SYNONYMOUS_CODING LOW None 0.01058 0.01058 0.00308 None None None None None None AMPD3|0.504907229|15.58%
View allfamilies AWI 11 rs3741041
dbSNP Clinvar
10521764 1324.76 T C PASS 0/1 140 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWI 11 rs3858418
dbSNP Clinvar
101771248 639.75 G A PASS 1/1 67 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWI 11 rs4938016
dbSNP Clinvar
113270015 893.63 G C PASS 1/1 80 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 allfamilies AWI 11 rs1800497
dbSNP Clinvar
113270828 828.565 G A PASS 0/1 214 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%
View allfamilies AWI 11 rs2734848
dbSNP Clinvar
113270374 1631.06 C T PASS 1/1 135 SYNONYMOUS_CODING LOW None 0.00060 0.00060 0.24391 None None None None None None ANKK1|0.031328783|68.87%
View allfamilies AWI 11 rs11604671
dbSNP Clinvar
113268059 1578.93 G A PASS 0/1 139 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 allfamilies AWI 11 rs2734849
dbSNP Clinvar
113270160 1938.39 A G PASS 0/1 169 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 allfamilies AWI 11 rs17115439
dbSNP Clinvar
113264272 2106.22 T C PASS 0/1 151 SYNONYMOUS_CODING LOW None 0.52596 0.52600 0.39937 None None None None None None ANKK1|0.031328783|68.87%
View allfamilies AWI 11 rs4938013
dbSNP Clinvar
113264470 1807.09 A C PASS 0/1 146 SYNONYMOUS_CODING LOW None 0.66054 0.66050 0.28420 None None None None None None ANKK1|0.031328783|68.87%
View allfamilies AWI 11 rs7118900
dbSNP Clinvar
113266821 107.19 G A PASS 0/1 28 NON_SYNONYMOUS_CODING MODERATE None 0.32049 0.32050 0.22305 0.06 0.25 None None None None None None ANKK1|0.031328783|68.87%

ANKRD49

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWI 11 rs2509943
dbSNP Clinvar
94231257 706.22 C G PASS 1/1 82 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWI 11 rs76718681
dbSNP Clinvar
69933891 1568.96 G A PASS 0/1 172 NON_SYNONYMOUS_CODING MODERATE None 0.04812 0.04812 0.06043 0.64 0.00 None None None None None None ANO1|0.129436977|45.95%
View allfamilies AWI 11 rs2276066
dbSNP Clinvar
70007311 3825.34 A G PASS 1/1 311 SYNONYMOUS_CODING LOW None 0.60324 0.60320 0.41343 None None None None None None ANO1|0.129436977|45.95%
View allfamilies AWI 11 rs10898112
dbSNP Clinvar
69934085 1120.68 G A PASS 0/1 153 SYNONYMOUS_CODING LOW None 0.19948 0.19950 0.24620 None None None None None None ANO1|0.129436977|45.95%
View allfamilies AWI 11 rs2276067
dbSNP Clinvar
70007392 3828.43 A G PASS 1/1 311 SYNONYMOUS_CODING LOW None 0.65815 0.65810 0.36090 None None None None None None ANO1|0.129436977|45.95%

ANO3

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWI 11 rs7946841
dbSNP Clinvar
26656563 1748.09 C T PASS 0/1 136 SYNONYMOUS_CODING LOW None 0.34125 0.34130 0.35535 None None None None None None ANO3|0.315688772|26.37%
View allfamilies AWI 11 rs2663168
dbSNP Clinvar
26568966 796.91 A G PASS 1/1 55 SYNONYMOUS_CODING LOW None 0.67512 0.67510 0.34930 None None None None None None ANO3|0.315688772|26.37%
View allfamilies AWI 11 rs10835051
dbSNP Clinvar
26677947 627.7 C T PASS 1/1 40 SYNONYMOUS_CODING LOW None 0.55851 0.55850 0.43894 None None None None None None ANO3|0.315688772|26.37%

ANO5

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWI 11 rs7481951
dbSNP Clinvar
22271870 1064.58 A T PASS 0/1 65 NON_SYNONYMOUS_CODING MODERATE None 0.44864 0.11 0.02 None None None None None None ANO5|0.057436384|60.57%
View allfamilies AWI 11 rs4312063
dbSNP Clinvar
22242729 857.024 T C PASS 1/1 54 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWI 11 rs7395065
dbSNP Clinvar
433387 2925.61 A G PASS 1/1 238 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 allfamilies AWI 11 rs10794323
dbSNP Clinvar
428385 2315.04 A G PASS 0/1 193 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 allfamilies AWI 11 rs12575508
dbSNP Clinvar
433867 304.62 G A PASS 0/1 68 NON_SYNONYMOUS_CODING MODERATE None 0.19868 0.19870 0.20450 0.67 0.00 None None None None None None ANO9|0.005315208|85.4%
View allfamilies AWI 11 rs10794324
dbSNP Clinvar
428489 647.91 T C PASS 1/1 71 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%

AP2A2

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWI 11 rs1128413
dbSNP Clinvar
1010694 2322.85 C T PASS 0/1 167 None None None 0.42772 0.42770 0.00 0.00 None None None None None None AP2A2|0.023484891|72.44%
View allfamilies AWI 11 rs11538725
dbSNP Clinvar
993907 334.61 C G PASS 0/1 139 SYNONYMOUS_CODING LOW None 0.18451 0.18450 0.13097 None None None None None None AP2A2|0.023484891|72.44%
View allfamilies AWI 11 rs10794358
dbSNP Clinvar
985547 2594.56 C T PASS 0/1 186 SYNONYMOUS_CODING LOW None 0.46106 0.46110 0.44776 None None None None None None AP2A2|0.023484891|72.44%

APIP

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWI 11 rs1571133
dbSNP Clinvar
34909926 604.7 T G PASS 0/1 27 SYNONYMOUS_CODING LOW None 0.57947 0.57950 0.40185 None None None None None None APIP|0.209674362|35.61%
View allfamilies AWI 11 rs1977420
dbSNP Clinvar
34910397 702.847 C T PASS 0/1 64 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%
View allfamilies AWI 11 rs2956114
dbSNP Clinvar
34937813 593.83 G A PASS 0/1 54 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%

APLNR

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWI 11 rs948847
dbSNP Clinvar
57004344 1226.2 G T PASS 1/1 70 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWI 11 rs5092
dbSNP Clinvar
116693464 1836.36 C T PASS 1/1 176 SYNONYMOUS_CODING LOW None 0.71985 0.71980 0.16146 None None None None None None APOA4|0.026315681|71.18%
View allfamilies AWI 11 rs5104
dbSNP Clinvar
116692334 1663.06 C T PASS 1/1 142 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 allfamilies AWI 11 rs5110
dbSNP Clinvar
116691634 594.8 C A PASS 0/1 217 NON_SYNONYMOUS_CODING MODERATE None 0.02376 0.02376 0.06082 0.08 0.02 None None None None None None APOA4|0.026315681|71.18%

APOC3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWI 11 rs4520
dbSNP Clinvar
116701535 1205.07 T C PASS 1/1 117 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWI 11 rs2291289
dbSNP Clinvar
72408657 368.58 C T PASS 0/1 88 SYNONYMOUS_CODING LOW None 0.25899 0.25900 0.34129 None None None None None None ARAP1|0.193135923|37.51%

ARFGAP2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWI 11 rs4752820
dbSNP Clinvar
47188314 675.22 T C PASS 1/1 74 SYNONYMOUS_CODING LOW None 0.99880 0.99880 0.00185 None None None None None None ARFGAP2|0.358971982|23.5%
View allfamilies AWI 11 rs3740691
dbSNP Clinvar
47188411 2146.13 C T PASS 1/1 176 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%

ARHGAP1

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWI 11 rs4268467
dbSNP Clinvar
46702920 2325.4 T C PASS 1/1 157 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWI 11 rs670440
dbSNP Clinvar
128868239 1603.21 T C PASS 0/1 160 SYNONYMOUS_CODING LOW None 0.57109 0.57110 0.33926 None None None None None None ARHGAP32|0.193856794|37.43%

ARHGAP42

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWI 11 rs569270
dbSNP Clinvar
100847050 2026.33 A G PASS 1/1 191 SYNONYMOUS_CODING LOW None 0.56010 0.56010 0.39969 None None None None None None ARHGAP42|0.236996835|32.7%
View allfamilies AWI 11 rs654593
dbSNP Clinvar
100846936 968.641 A G PASS 1/1 52 SYNONYMOUS_CODING LOW None 0.57388 0.57390 0.40999 None None None None None None ARHGAP42|0.236996835|32.7%

ARHGEF12

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWI 11 rs766894
dbSNP Clinvar
120328858 568.07 T C PASS 0/1 62 SYNONYMOUS_CODING LOW None 0.12480 0.12480 0.21835 None None None None None None ARHGEF12|0.378503864|22.14%

ARL2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWI 11 rs664226
dbSNP Clinvar
64789194 997.27 T C PASS 0/1 91 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.45767 0.45770 0.34562 1.00 0.00 None None None None None None ARL2|0.107780954|49.62%

ARRB1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWI 11 rs877711
dbSNP Clinvar
74994352 200.16 G A PASS 0/1 72 SYNONYMOUS_CODING LOW None 0.16454 0.16450 0.13353 None None None None None None ARRB1|0.630038287|10.76%

ART1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWI 11 rs35136756
dbSNP Clinvar
3681115 126.408 A G PASS 0/1 61 SYNONYMOUS_CODING LOW None 0.15795 0.15790 0.17705 None None None None None None ART1|0.034283221|67.7%
View allfamilies AWI 11 rs61998205
dbSNP Clinvar
3681051 134.02 C G PASS 0/1 95 NON_SYNONYMOUS_CODING MODERATE None 0.03734 0.03734 0.08132 0.22 0.01 None None None None None None ART1|0.034283221|67.7%
View allfamilies AWI 11 rs2280134
dbSNP Clinvar
3681519 2302.69 T C PASS 0/1 153 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%

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 allfamilies AWI 11 rs4910876
dbSNP Clinvar
3661140 1718.97 T C PASS 1/1 134 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWI 11 rs4909951
dbSNP Clinvar
8959545 1841.56 C A PASS 1/1 135 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 allfamilies AWI 11 rs4910179
dbSNP Clinvar
8959511 930.67 T G PASS 0/1 62 SYNONYMOUS_CODING LOW None 0.66074 0.66070 0.40317 None None None None None None ASCL3|0.117246772|47.89%

ATG2A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWI 11 rs656195
dbSNP Clinvar
64677293 3762.81 G C PASS 1/1 313 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%
View allfamilies AWI 11 rs618006
dbSNP Clinvar
64680819 1408.71 G A PASS 0/1 138 SYNONYMOUS_CODING LOW None 0.55172 0.55170 0.36080 None None None None None None ATG2A|0.043961932|64.54%

ATHL1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View allfamilies AWI 11 rs10902120
dbSNP Clinvar
290816 2082.73 A G PASS 1/1 198 SYNONYMOUS_CODING LOW None 0.66653 0.66650 0.24873 None None None None None None ATHL1|0.004993482|85.83%

ATM

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 allfamilies AWI 11 rs659243
dbSNP Clinvar
108183167 865.21 A G PASS 1/1 57 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 1.00 0.00 None None None None None None ATM|0.992666029|0.97%,C11orf65|0.02654042|71.1%

B4GALNT4

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 allfamilies AWI 11 . 379464 211.79 TC... T PASS 0/1 89 FRAME_SHIFT HIGH None None None None None None None B4GALNT4|0.009006111|81.67%