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Genes:
AAMDC, ABCC8, ACAT1, ACCS, ACER3, ACP2, ACTN3, ADAMTS15, ADAMTS8, ADRBK1, AGBL2, AHNAK, AIP, ALDH3B1, ALDH3B2, ALG8, ALG9, ALKBH3, ALKBH8, ALX4, AMICA1, AMPD3, ANGPTL5, ANKK1, ANKRD13D, ANO1, ANO3, ANO9, AP000769.1, AP001024.1, AP003774.4, AP2A2, AP5B1, APIP, APOA4, APOA5, APOC3, ARAP1, ARFGAP2, ARHGAP1, ARHGAP20, ARHGAP32, ARHGAP42, ARHGEF12, ARHGEF17, ARNTL, ART1, ART5, ASCL3, ATG16L2, ATG2A, ATHL1, ATM, B3GNT6, BACE1, BBOX1, BCL9L, BCO2, BDNF, BEST1, BRMS1, BRSK2, BTG4, BUD13, C11orf16, C11orf21, C11orf24, C11orf30, C11orf35, C11orf40, C11orf42, C11orf48, C11orf49, C11orf52, C11orf63, C11orf68, C11orf72, C11orf80, C11orf89, C11orf96, C2CD3, CABP2, CALCA, CAPN5, CASP12, CASP4, CASP5, CAT, CATSPER1, CCDC179, CCDC34, CCDC67, CCDC73, CCDC81, CCDC82, CCDC83, CCDC86, CCDC87, CCDC88B, CCDC90B, CCKBR, CD3E, CD44, CD5, CD6, CDC42BPG, CDCA5, CDHR5, CDON, CEP164, CEP57, CFL1, CHEK1, CHID1, CHRDL2, CHRM1, CHST1, CNTN5, COLCA2, CPSF7, CPT1A, CREB3L1, CRTAM, CSNK2A3, CST6, CTD-2210P24.4, CTNND1, CTR9, CTSC, CTSF, CTSW, CTTN, CUL5, CWC15, CWF19L2, CYB5R2, CYP2R1, DAGLA, DAK, DBX1, DCDC1, DCHS1, DCPS, DDB2, DDI1, DDX25, DEPDC7, DGAT2, DGKZ, DHCR7, DIXDC1, DKK3, DLAT, DNAJB13, DNHD1, DPP3, DRD2, DSCAML1, DYNC2H1, EED, EFCAB4A, EFEMP2, EHBP1L1, EHD1, EHF, EI24, EIF3F, EIF4G2, ELF5, ELP4, ENDOD1, EPS8L2, ESAM, ETS1, EXPH5, FAM111A, FAM160A2, FAM168A, FAM180B, FAM181B, FAM76B, FAM86C1, FANCF, FAT3, FDXACB1, FJX1, FKBP2, FLI1, FLRT1, FNBP4, FRMD8, FSHB, GAL3ST3, GAS2, GDPD4, GDPD5, GLB1L2, GLB1L3, GLYAT, GLYATL2, GRAMD1B, GRIK4, GRM5, GSTP1, GYLTL1B, HEPACAM, HEPHL1, HEPN1, HINFP, HRAS, HRASLS5, HSD17B12, HSPA8, HTATIP2, HTR3A, HTR3B, HYLS1, HYOU1, IFITM1, IFITM2, IFITM5, IGHMBP2, IGSF22, IGSF9B, IL10RA, IL18, ILK, INCENP, INPPL1, INS, INSC, IPO7, IRF7, KCNJ11, KCNJ5, KCTD14, KDM2A, KDM4E, KIAA1377, KIAA1549L, KIAA1731, KIF18A, KLC2, KLHL35, KRTAP5-1, KRTAP5-10, KRTAP5-5, LDHC, LGR4, LIPT2, LMO1, LMO2, LPXN, LRFN4, LRP4, LRP5, LRRC32, LRRC4C, LRRC55, LRRC56, LSP1, LUZP2, MADD, MAML2, MAP6, MCAM, MDK, ME3, MED17, MEN1, MFRP, MICALCL, MMP1, MMP10, MMP20, MMP27, MMP3, MMP7, MMP8, MOB2, MPEG1, MPZL3, MRGPRD, MRGPRE, MRGPRF, MRGPRX3, MRGPRX4, MRPL11, MRPL23, MRVI1, MS4A1, MS4A12, MS4A13, MS4A14, MS4A15, MS4A3, MS4A4A, MS4A6A, MS4A6E, MSANTD4, MTCH2, MTMR2, MTNR1B, MUC15, MUC2, MUC5AC, MUC5B, MUC6, MUS81, MYBPC3, MYEOV, MYO7A, MYRF, NADSYN1, NARS2, NAT10, NAV2, NCAM1, NCR3LG1, NDUFC2, NDUFS8, NELL1, NEU3, NLRP14, NLRP6, NLRX1, NNMT, NOX4, NPAT, NRXN2, NTM, NUCB2, NUDT8, NUMA1, NUP160, NXF1, NXPE1, NXPE2, NXPE4, OAF, OR10A2, OR10A4, OR10A6, OR10D3, OR10G4, OR10G7, OR10G9, OR10Q1, OR10S1, OR10V1, OR1S1, OR1S2, OR2AG2, OR2D2, OR2D3, OR4A47, OR4B1, OR4C12, OR4C13, OR4C15, OR4C16, OR4C3, OR4C46, OR4C5, OR4D6, OR4P4, OR4S2, OR4X1, OR51A2, OR51A4, OR51A7, OR51B2, OR51B4, OR51B6, OR51D1, OR51E1, OR51E2, OR51G1, OR51I1, OR51I2, OR51J1, OR51L1, OR51M1, OR51Q1, OR51V1, OR52A1, OR52A5, OR52B1P, OR52B4, OR52B6, OR52D1, OR52E2, OR52E4, OR52E6, OR52E8, OR52H1, OR52I1, OR52J3, OR52L1, OR52N1, OR52N2, OR52N4, OR52R1, OR52W1, OR56B1, OR56B4, OR5A1, OR5AK2, OR5AN1, OR5AR1, OR5AS1, OR5B12, OR5B2, OR5B3, OR5D13, OR5D14, OR5D16, OR5D18, OR5F1, OR5L2, OR5M1, OR5M10, OR5M11, OR5M3, OR5P2, OR5P3, OR5R1, OR5T1, OR5T2, OR5W2, OR6A2, OR6Q1, OR8A1, OR8B2, OR8B3, OR8B4, OR8D1, OR8D4, OR8G1, OR8G5, OR8H1, OR8H2, OR8H3, OR8J1, OR8K1, OR8K3, OR8U1, OR9G1, OR9G4, OR9Q2, OSBPL5, OTOG, OVCH2, P2RX3, P2RY2, P4HA3, PAAF1, PACS1, PAFAH1B2, PANX1, PARVA, PATE1, PCNXL3, PCSK7, PDDC1, PDE2A, PDE3B, PDGFD, PDHX, PDZD3, PEX16, PGM2L1, PGR, PHLDB1, PHOX2A, PHRF1, PICALM, PIDD, PIK3C2A, PITPNM1, PKP3, PLCB3, PLET1, PNPLA2, POLD3, POLR2L, POU2F3, PPFIA1, PPFIBP2, PPP1R32, PRCP, PRDM10, PRDM11, PRDX5, PRG2, PRG3, PRKCDBP, PRMT3, PRPF19, PRR5L, PRRG4, PSMD13, PTGDR2, PTPN5, PTPRJ, PUS3, PVRL1, QSER1, RAB38, RAB3IL1, RAG1, RAPSN, RARRES3, RBMXL2, RCN1, RCOR2, RELA, RELT, RHOD, RIC3, RIC8A, RIN1, RNF141, RNF169, RNF26, RNH1, ROBO3, ROBO4, ROM1, RP11-113D6.10, RP11-113D6.6, RP11-794P6.2, RPL27A, RPS6KA4, RPS6KB2, RRM1, RRP8, RTN3, SAA1, SAA2, SAA4, SAAL1, SAC3D1, SART1, SBF2, SCGB1C1, SCUBE2, SDHAF2, SERGEF, SERPING1, SERPINH1, SHANK2, SIDT2, SIGIRR, SIK3, SIPA1, SIRT3, SLC15A3, SLC22A10, SLC22A12, SLC22A18, SLC22A18AS, SLC22A24, SLC22A25, SLC22A6, SLC25A45, SLC37A4, SLC39A13, SLC5A12, SLC6A5, SLCO2B1, SMCO4, SMPD1, SMTNL1, SNX15, SNX19, SORL1, SPATA19, SPI1, SPTBN2, SPTY2D1, SRSF8, ST14, ST3GAL4, ST5, STIM1, STK33, STT3A, STX5, SUV420H1, SWAP70, SYT8, SYT9, SYTL2, SYVN1, TAF1D, TBX10, TCIRG1, TCP11L1, TEAD1, TECTA, TENM4, TEX12, TH, TIRAP, TM7SF2, TMEM109, TMEM132A, TMEM133, TMEM135, TMEM216, TMEM223, TMEM225, TMEM25, TMEM262, TMEM80, TMPRSS13, TMPRSS4, TMPRSS5, TNKS1BP1, TNNI2, TNNT3, TOLLIP, TP53I11, TPCN2, TPP1, TREH, TRIM22, TRIM29, TRIM49B, TRIM49C, TRIM5, TRIM6, TRIM6-TRIM34, TRIM64C, TRIM66, TRPC6, TRPM5, TSGA10IP, TSKU, TSPAN18, TSPAN32, TSPAN4, TSSC4, TTC12, TTC9C, TUB, TYR, UBE2L6, UBQLN3, UBQLNL, UCP3, UNC93B1, USH1C, USP2, USP28, USP35, USP47, VEGFB, VPS11, VPS37C, VPS51, VWA5A, WDR74, XRRA1, ZBED5, ZDHHC13, ZDHHC5, ZNF143, ZNF202, ZNF214, ZNF215, ZNF259, ZNHIT2, ZP1,

Genes at Omim

ABCC8, ACAT1, ACER3, ACP2, ACTN3, AIP, ALG8, ALG9, ALX4, AMPD3, ANO3, APOA5, APOC3, ATM, BEST1, C2CD3, CABP2, CAPN5, CASP12, CAT, CATSPER1, CD3E, CD44, CDON, CEP164, CEP57, CPT1A, CREB3L1, CTNND1, CTSC, CTSF, CYP2R1, DCHS1, DCPS, DDB2, DHCR7, DLAT, DNAJB13, DYNC2H1, EED, EFEMP2, EIF3F, ELP4, EPS8L2, EXPH5, FAM111A, FANCF, FLI1, FSHB, HEPACAM, HRAS, HYLS1, HYOU1, IFITM5, IGHMBP2, IL10RA, INPPL1, INS, IRF7, KCNJ11, KCNJ5, KLC2, LGR4, LIPT2, LMO1, LMO2, LRP4, LRP5, LRRC56, MAML2, MED17, MEN1, MFRP, MMP1, MMP20, MMP3, MS4A1, MTMR2, MTNR1B, MUC5B, MYBPC3, MYO7A, MYRF, NARS2, NDUFS8, NNMT, NUMA1, NUP160, OTOG, PACS1, PDHX, PEX16, PGR, PHOX2A, PICALM, PNPLA2, PTPRJ, PUS3, RAG1, RAPSN, RELA, ROBO3, ROM1, SBF2, SDHAF2, SERPINH1, SHANK2, SIK3, SLC22A12, SLC37A4, SLC39A13, SLC6A5, SMPD1, SPTBN2, ST14, STIM1, STT3A, TCIRG1, TEAD1, TECTA, TENM4, TH, TIRAP, TMEM216, TNNI2, TNNT3, TPCN2, TPP1, TREH, TRPC6, TUB, TYR, UCP3, UNC93B1, USH1C, VPS11, ZP1,
ABCC8 Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3)
Hypoglycemia of infancy, leucine-sensitive, 240800 (3)
Diabetes mellitus, noninsulin-dependent, 125853 (3)
Diabetes mellitus, permanent neonatal, 606176 (3)
Diabetes mellitus, transient neonatal 2, 610374 (3)
ACAT1 Alpha-methylacetoacetic aciduria, 203750 (3)
ACER3 ?Leukodystrophy, progressive, early childhood-onset, 617762 (3)
ACP2 ?Lysosomal acid phosphatase deficiency, 200950 (1)
ACTN3 [Alpha-actinin-3 deficiency], 617749 (3)
[Sprinting performance], 617749 (3)
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)
APOA5 {Hypertriglyceridemia, susceptibility to}, 145750 (3)
Hyperchylomicronemia, late-onset, 144650 (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)
C2CD3 ?Orofaciodigital syndrome XIV, 615948 (3)
CABP2 Deafness, autosomal recessive 93, 614899 (3)
CAPN5 Vitreoretinopathy, neovascular inflammatory, 193235 (3)
CASP12 {Sepsis, susceptibility to} (3)
CAT Acatalasemia, 614097 (3)
CATSPER1 Spermatogenic failure 7, 612997 (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)
CEP57 Mosaic variegated aneuploidy syndrome 2, 614114 (3)
CPT1A CPT deficiency, hepatic, type IA, 255120 (3)
CREB3L1 Osteogenesis imperfecta, type XVI, 616229 (3)
CTNND1 Blepharocheilodontic syndrome 2, 617681 (3)
CTSC Haim-Munk syndrome, 245010 (3)
Papillon-Lefevre syndrome, 245000 (3)
Periodontitis 1, juvenile, 170650 (3)
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)
DHCR7 Smith-Lemli-Opitz syndrome, 270400 (3)
DLAT Pyruvate dehydrogenase E2 deficiency, 245348 (3)
DNAJB13 Ciliary dyskinesia, primary, 34, 617091 (3)
DYNC2H1 Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 (3)
EED Cohen-Gibson syndrome, 617561 (3)
EFEMP2 Cutis laxa, autosomal recessive, type IB, 614437 (3)
EIF3F Mental retardation, autosomal recessive 67, 618295 (3)
ELP4 ?Aniridia 2, 617141 (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)
HEPACAM Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925 (3)
Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926 (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)
HYLS1 Hydrolethalus syndrome, 236680 (3)
HYOU1 ?Immunodeficiency 59 and hypoglycemia, 233600 (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)
INPPL1 Opsismodysplasia, 258480 (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)
KLC2 Spastic paraplegia, optic atrophy, and neuropathy, 609541 (3)
LGR4 {Bone mineral density, low, susceptibility to}, 615311 (3)
LIPT2 Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, 617668 (3)
LMO1 Leukemia, T-cell acute lymphoblastic (2)
LMO2 Leukemia, acute T-cell (2)
LRP4 Cenani-Lenz syndactyly syndrome, 212780 (3)
?Myasthenic syndrome, congenital, 17, 616304 (3)
Sclerosteosis 2, 614305 (3)
LRP5 Hyperostosis, endosteal, 144750 (3)
{Osteoporosis}, 166710 (3)
Exudative vitreoretinopathy 4, 601813 (3)
Osteopetrosis, autosomal dominant 1, 607634 (3)
Osteoporosis-pseudoglioma syndrome, 259770 (3)
Osteosclerosis, 144750 (3)
Polycystic liver disease 4 with or without kidney cysts, 617875 (3)
[Bone mineral density variability 1], 601884 (3)
van Buchem disease, type 2, 607636 (3)
LRRC56 Ciliary dyskinesia, primary, 39, 618254 (3)
MAML2 Mucoepidermoid salivary gland carcinoma (3)
MED17 Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 (3)
MEN1 Adrenal adenoma, somatic (3)
Angiofibroma, somatic (3)
Carcinoid tumor of lung (3)
Lipoma, somatic (3)
Multiple endocrine neoplasia 1, 131100 (3)
Parathyroid adenoma, somatic (3)
MFRP Microphthalmia, isolated 5, 611040 (3)
Nanophthalmos 2, 609549 (3)
MMP1 COPD, rate of decline of lung function in, 606963 (3)
{Epidermolysis bullosa dystrophica, autosomal recessive, modifier of}, 226600 (3)
MMP20 Amelogenesis imperfecta, type IIA2, 612529 (3)
MMP3 {Coronary heart disease, susceptibility to, 6}, 614466 (3)
MS4A1 Immunodeficiency, common variable, 5, 613495 (3)
MTMR2 Charcot-Marie-Tooth disease, type 4B1, 601382 (3)
MTNR1B {Diabetes mellitus, type 2, susceptibility to}, 125853 (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)
NDUFS8 Mitochondrial complex I deficiency, nuclear type 2, 618222 (3)
NNMT Homocysteine plasma level (2)
NUMA1 Leukemia, acute promyelocytic, somatic, 612376 (3)
NUP160 ?Nephrotic syndrome, type 19, 618178 (3)
OTOG Deafness, autosomal recessive 18B, 614945 (3)
PACS1 Schuurs-Hoeijmakers syndrome, 615009 (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)
PHOX2A Fibrosis of extraocular muscles, congenital, 2, 602078 (3)
PICALM Leukemia, acute myeloid, somatic, 601626 (3)
PNPLA2 Neutral lipid storage disease with myopathy, 610717 (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)
RELA ?Mucocutaneous ulceration, chronic, 618287 (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)
SDHAF2 Paragangliomas 2, 601650 (3)
SERPINH1 {Preterm premature rupture of the membranes, susceptibility to}, 610504 (3)
Osteogenesis imperfecta, type X, 613848 (3)
SHANK2 {Autism susceptibility 17}, 613436 (3)
SIK3 ?Spondyloepimetaphyseal dysplasia, Krakow type, 618162 (3)
SLC22A12 Hypouricemia, renal, 220150 (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)
STT3A ?Congenital disorder of glycosylation, type Iw, 615596 (3)
TCIRG1 Osteopetrosis, autosomal recessive 1, 259700 (3)
TEAD1 Sveinsson chorioretinal atrophy, 108985 (3)
TECTA Deafness, autosomal dominant 8/12, 601543 (3)
Deafness, autosomal recessive 21, 603629 (3)
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)
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)
UCP3 {Obesity, severe, and type II diabetes}, 601665 (3)
UNC93B1 {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, 610551 (3)
USH1C Deafness, autosomal recessive 18A, 602092 (3)
Usher syndrome, type 1C, 276904 (3)
VPS11 Leukodystrophy, hypomyelinating, 12, 616683 (3)
ZP1 Oocyte maturation defect 1, 615774 (3)

Genes at Clinical Genomics Database

ABCC8, ACAT1, AIP, ALG8, ALG9, ALX4, AMPD3, ANO3, APOA5, APOC3, ATM, BDNF, BEST1, C2CD3, CABP2, CAPN5, CAT, CD3E, CD44, CDON, CEP164, CEP57, CPT1A, CREB3L1, CTSC, CTSF, CYP2R1, DCHS1, DCPS, DDB2, DHCR7, DLAT, DRD2, DYNC2H1, EFEMP2, ESAM, EXPH5, FAM111A, FANCF, FLI1, FSHB, GRIK4, HEPACAM, HRAS, HYLS1, IFITM5, IGHMBP2, IL10RA, INPPL1, INS, IRF7, KCNJ11, KCNJ5, KLC2, LRP4, LRP5, MED17, MEN1, MFRP, MMP20, MS4A1, MTMR2, MYBPC3, MYO7A, NARS2, NDUFS8, NPAT, OTOG, PACS1, PDHX, PEX16, PHOX2A, PNPLA2, RAG1, RAPSN, ROBO3, ROM1, SBF2, SDHAF2, SERPING1, SERPINH1, SHANK2, SLC22A12, SLC37A4, SLC39A13, SLC6A5, SMPD1, SPTBN2, ST14, STIM1, STT3A, TCIRG1, TEAD1, TECTA, TENM4, TH, TMEM216, TNNI2, TNNT3, 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
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)
APOA5 Hyperchylomicronemia
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
C2CD3 Orofaciodigital syndrome XIV
CABP2 Deafness, autosomal recessive 93
CAPN5 Vitreoretinopathy, neovascular inflammatory
CAT Acatalasemia
CD3E Immunodeficiency 18
CD44 Blood group, Indian
CDON Holoprosencephaly 11
CEP164 Nephronophthisis 15
CEP57 Mosaic variegated aneuploidy syndrome 2
CPT1A Carnitine palmitoyltransferase deficiency I
CREB3L1 Osteogenesis imperfecta, type XVI
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
DHCR7 Smith-Lemli-Opitz syndrome
DLAT Pyruvate dehydrogenase E2 deficiency
DRD2 Myoclonic dystonia
DYNC2H1 Short-rib thoracic dysplasia 3 with or without polydactyly
EFEMP2 Cutis laxa, autosomal recessive type IB
ESAM Schizophrenia
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
GRIK4 Response to antidepressant treatment with citalopram
HEPACAM Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation
Megalencephalic leukoencephalopathy with subcortical cysts 2A
HRAS Costello syndrome
Congenital myopathy with excess of muscle spindles
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
INPPL1 Opsismodysplasia
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
KLC2 Spastic paraplegia, optic atrophy, and neuropathy
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
MTMR2 Charcot-Marie-Tooth disease, type 4B1
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
NDUFS8 Mitochondrial complex I deficiency
Leigh syndrome
NPAT Nodular lymphocyte predominant Hodgkin lymphoma, familial
OTOG Deafness, autosomal recessive 18B
PACS1 Mental retardation, autosomal dominant 17
PDHX Pyruvate dehydrogenase E3-binding protein deficiency
PEX16 Peroxisome biogenesis factor disorder 16
PHOX2A Fibrosis of extraocular muscles, congenital, 2
PNPLA2 Neutral lipid storage disease with myopathy
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
ROBO3 Gaze palsy, horizontal, with progressive scoliosis
ROM1 Retinitis pigmentosa 7, digenic
SBF2 Charcot-Marie-Tooth disease, type 4B2 with early-onset glaucoma
SDHAF2 Paragangliomas 2
SERPING1 Angioedema, hereditary
SERPINH1 Osteogenesis imperfecta, type X
SHANK2 Autism, susceptibility to 17
SLC22A12 Hypouricemia, renal 1
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
STT3A Congenital disorder of glycosylation, type Iw
TCIRG1 Osteopetrosis, autosomal recessive 1
TEAD1 Sveinsson choreoretinal atrophy
TECTA Deafness, autosomal recessive 21
Deafness, autosomal dominant 8/12
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
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: 3228
Number of Genes: 675

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 7341maas0357_annotated 11 rs60400274,rs397702235
dbSNP Clinvar
77629132 876.73 A AT PASS 0/1 64 None None None 0.72963 0.72960 None None None None None None AAMDC|0.466531332|17.33%,INTS4|0.13856273|44.61%
View 7341maas0357_annotated 11 rs585721
dbSNP Clinvar
77553638 1677.77 T C PASS 0/1 136 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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View 7341maas0357_annotated 11 rs8192690
dbSNP Clinvar
17414570 3318.77 C T PASS 0/1 239 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 7341maas0357_annotated 11 rs1799857
dbSNP Clinvar
17452492 968.77 G A PASS 0/1 55 SYNONYMOUS_CODING LOW None 0.42991 0.42990 0.45873 None None None None None None ABCC8|0.967482639|1.79%
View 7341maas0357_annotated 11 rs757110
dbSNP Clinvar
17418477 3736.77 C A PASS 1/1 117 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 7341maas0357_annotated 11 rs1048099
dbSNP Clinvar
17496516 3212.77 A G PASS 0/1 256 SYNONYMOUS_CODING LOW None 0.43930 0.43930 0.47682 None None None None None None ABCC8|0.967482639|1.79%

ACAT1

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View 7341maas0357_annotated 11 rs3741056
dbSNP Clinvar
107992346 792.77 G C PASS 1/1 25 NON_SYNONYMOUS_CODING MODERATE None 0.33187 0.33190 0.20971 0.02 0.14 None None None None None None ACAT1|0.138678583|44.58%

ACCS

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View 7341maas0357_annotated 11 rs3107275
dbSNP Clinvar
44104981 1827.77 C T PASS 0/1 160 NON_SYNONYMOUS_CODING MODERATE None 0.40375 0.40380 0.41512 0.23 0.10 None None None None None None ACCS|0.034927707|67.49%

ACER3

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View 7341maas0357_annotated 11 rs3740767
dbSNP Clinvar
76701606 1846.77 G A PASS 1/1 56 SYNONYMOUS_CODING LOW None 0.53295 0.53290 0.40072 None None None None None None ACER3|0.282744715|28.9%
View 7341maas0357_annotated 11 rs4379869
dbSNP Clinvar
76637651 9156.77 G A PASS 1/1 292 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 7341maas0357_annotated 11 rs4479014
dbSNP Clinvar
76637680 9953.77 G A PASS 1/1 326 SYNONYMOUS_CODING LOW None 0.50379 0.50380 0.41728 None None None None None None ACER3|0.282744715|28.9%

ACP2

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View 7341maas0357_annotated 11 rs2167079
dbSNP Clinvar
47270255 717.77 C T PASS 0/1 89 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%

ACTN3

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View 7341maas0357_annotated 11 rs1815739
dbSNP Clinvar
66328095 2031.77 T C PASS 0/1 138 STOP_LOST HIGH None 0.59924 0.59920 0.35908 None None None None None None None
View 7341maas0357_annotated 11 rs1671064
dbSNP Clinvar
66327673 1108.77 G A PASS 0/1 105 NON_SYNONYMOUS_CODING MODERATE None 0.58646 0.58650 0.36660 1.00 0.00 None None None None None None None
View 7341maas0357_annotated 11 rs540874
dbSNP Clinvar
66329732 329.77 A G PASS 0/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.58307 0.58310 0.37179 1.00 0.00 None None None None None None None
View 7341maas0357_annotated 11 rs618838
dbSNP Clinvar
66328719 225.77 T C PASS 0/1 11 NON_SYNONYMOUS_CODING MODERATE None 0.60024 0.60020 0.36450 1.00 0.00 None None None None None None None

ADAMTS15

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View 7341maas0357_annotated 11 rs731446
dbSNP Clinvar
130339312 716.77 T C PASS 0/1 51 SYNONYMOUS_CODING LOW None 0.56550 0.56550 0.33033 None None None None None None ADAMTS15|0.184066185|38.46%

ADAMTS8

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View 7341maas0357_annotated 11 rs7927048
dbSNP Clinvar
130297948 466.77 C G PASS 1/1 11 NON_SYNONYMOUS_CODING MODERATE None 0.46925 0.46920 0.39489 0.56 0.24 None None None None None None ADAMTS8|0.042125202|65.07%
View 7341maas0357_annotated 11 rs7942034
dbSNP Clinvar
130297957 531.77 T C PASS 1/1 13 SYNONYMOUS_CODING LOW None 0.91374 0.91370 0.11270 None None None None None None ADAMTS8|0.042125202|65.07%

ADRBK1

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View 7341maas0357_annotated 11 rs2228418
dbSNP Clinvar
67034266 882.77 C A PASS 1/1 30 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.64876 0.64880 0.25747 None None None None None None ADRBK1|0.645969984|10.23%

AGBL2

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View 7341maas0357_annotated 11 rs7941404
dbSNP Clinvar
47712213 3376.77 C T PASS 0/1 239 NON_SYNONYMOUS_CODING MODERATE None 0.03894 0.03894 0.10132 1.00 0.00 None None None None None None AGBL2|0.048331714|63.19%

AHNAK

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View 7341maas0357_annotated 11 rs566144
dbSNP Clinvar
62292882 7000.77 G T PASS 1/1 208 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.00 None None None None None None AHNAK|0.340600581|24.81%

AIP

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View 7341maas0357_annotated 11 rs4930199
dbSNP Clinvar
67258391 2124.77 A G PASS 1/1 70 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%
View 7341maas0357_annotated 11 rs641081
dbSNP Clinvar
67257823 4548.77 C A PASS 1/1 147 NON_SYNONYMOUS_CODING MODERATE None 0.84545 0.84540 0.16574 1.00 0.01 None None None None None None AIP|0.191995289|37.6%

ALDH3B1

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View 7341maas0357_annotated 11 rs11436139,rs58238184
dbSNP Clinvar
67795378 3263.73 G GC PASS 1/1 93 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 7341maas0357_annotated 11 rs58160034,rs397695802
dbSNP Clinvar
67789293 4693.73 G GC PASS 1/1 125 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 7341maas0357_annotated 11 rs11433668,rs397777471
dbSNP Clinvar
67786064 1509.73 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 7341maas0357_annotated 11 rs146689178
dbSNP Clinvar
67786355 1280.77 C T PASS 0/1 81 SYNONYMOUS_CODING LOW None 0.00200 0.00200 0.00205 None None None None None None ALDH3B1|0.033093329|68.12%
View 7341maas0357_annotated 11 rs2286163
dbSNP Clinvar
67793509 1215.77 C T PASS 0/1 89 SYNONYMOUS_CODING LOW None 0.22125 0.22120 0.23293 None None None None None None ALDH3B1|0.033093329|68.12%

ALDH3B2

Omim - GeneCards - NCBI
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View 7341maas0357_annotated 11 rs1551888
dbSNP Clinvar
67433869 4111.77 C T PASS 1/1 122 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 7341maas0357_annotated 11 rs1551886
dbSNP Clinvar
67430762 2513.77 T C PASS 1/1 80 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 7341maas0357_annotated 11 rs2447571
dbSNP Clinvar
67432804 4489.77 T C PASS 1/1 153 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%

ALG8

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View 7341maas0357_annotated 11 rs17825668
dbSNP Clinvar
77815059 408.77 A G PASS 0/1 29 NON_SYNONYMOUS_CODING MODERATE None 0.00958 0.00959 0.02587 0.05 0.01 None None None None None None ALG8|0.271828489|29.77%

ALG9

Omim - GeneCards - NCBI
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View 7341maas0357_annotated 11 rs200460892
dbSNP Clinvar
111708307 579.77 T C PASS 0/1 39 SYNONYMOUS_CODING LOW None 0.00020 0.00020 None None None None None None ALG9|0.352156163|23.94%
View 7341maas0357_annotated 11 rs10708475
dbSNP Clinvar
111742145 1431.73 CG C PASS 1/1 37 FRAME_SHIFT HIGH None 1.00000 1.00000 0.00040 None None None None None None ALG9|0.352156163|23.94%
View 7341maas0357_annotated 11 rs10502151
dbSNP Clinvar
111724133 1444.77 C T PASS 0/1 117 NON_SYNONYMOUS_CODING MODERATE None 0.32648 0.32650 0.26369 0.06 0.12 None None None None None None ALG9|0.352156163|23.94%

ALKBH3

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View 7341maas0357_annotated 11 rs1048928
dbSNP Clinvar
43940644 4342.77 G T PASS 1/1 137 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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View 7341maas0357_annotated 11 rs645056
dbSNP Clinvar
107420530 3373.77 A G PASS 0/1 243 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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View 7341maas0357_annotated 11 rs3802805
dbSNP Clinvar
44286566 1773.77 G A PASS 0/1 114 SYNONYMOUS_CODING LOW None 0.35843 0.35840 0.27461 None None None None None None ALX4|0.690991356|8.75%
View 7341maas0357_annotated 11 rs10769028
dbSNP Clinvar
44297054 7570.77 T C PASS 1/1 245 SYNONYMOUS_CODING LOW None 0.99161 0.99160 0.00877 None None None None None None ALX4|0.690991356|8.75%

AMICA1

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View 7341maas0357_annotated 11 rs1793174
dbSNP Clinvar
118074337 2914.77 A G PASS 1/1 94 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%
View 7341maas0357_annotated 11 rs2298831
dbSNP Clinvar
118068752 4179.77 T C PASS 0/1 265 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 7341maas0357_annotated 11 rs17121881
dbSNP Clinvar
118081345 1002.77 A T PASS 0/1 87 NON_SYNONYMOUS_CODING MODERATE None 0.46745 0.46750 0.44735 0.00 0.98 None None None None None None AMICA1|0.006975482|83.52%

AMPD3

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 7341maas0357_annotated 11 rs3741041
dbSNP Clinvar
10521764 2206.77 T C PASS 0/1 186 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 7341maas0357_annotated 11 rs3858418
dbSNP Clinvar
101771248 4175.77 G A PASS 1/1 144 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 7341maas0357_annotated 11 rs2734848
dbSNP Clinvar
113270374 1810.77 C T PASS 0/1 153 SYNONYMOUS_CODING LOW None 0.00060 0.00060 0.24391 None None None None None None ANKK1|0.031328783|68.87%
View 7341maas0357_annotated 11 rs17115439
dbSNP Clinvar
113264272 2389.77 T C PASS 0/1 166 SYNONYMOUS_CODING LOW None 0.52596 0.52600 0.39937 None None None None None None ANKK1|0.031328783|68.87%
View 7341maas0357_annotated 11 rs4938013
dbSNP Clinvar
113264470 445.77 A C PASS 0/1 47 SYNONYMOUS_CODING LOW None 0.66054 0.66050 0.28420 None None None None None None ANKK1|0.031328783|68.87%
View 7341maas0357_annotated 11 rs4938016
dbSNP Clinvar
113270015 2458.77 G C PASS 0/1 235 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 7341maas0357_annotated 11 rs2734849
dbSNP Clinvar
113270160 1978.77 A G PASS 0/1 181 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%

ANKRD13D

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 7341maas0357_annotated 11 rs2298815
dbSNP Clinvar
67068859 3317.77 T C PASS 1/1 101 SYNONYMOUS_CODING LOW None 0.89477 0.89480 0.09199 None None None None None None ANKRD13D|0.070594446|57.34%

ANO1

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 7341maas0357_annotated 11 rs2276066
dbSNP Clinvar
70007311 3356.77 A G PASS 1/1 104 SYNONYMOUS_CODING LOW None 0.60324 0.60320 0.41343 None None None None None None ANO1|0.129436977|45.95%
View 7341maas0357_annotated 11 rs2276067
dbSNP Clinvar
70007392 6213.77 A G PASS 1/1 205 SYNONYMOUS_CODING LOW None 0.65815 0.65810 0.36090 None None None None None None ANO1|0.129436977|45.95%
View 7341maas0357_annotated 11 rs10898112
dbSNP Clinvar
69934085 1861.77 G A PASS 0/1 134 SYNONYMOUS_CODING LOW None 0.19948 0.19950 0.24620 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 7341maas0357_annotated 11 rs2663168
dbSNP Clinvar
26568966 8299.77 A G PASS 1/1 260 SYNONYMOUS_CODING LOW None 0.67512 0.67510 0.34930 None None None None None None ANO3|0.315688772|26.37%
View 7341maas0357_annotated 11 rs10835051
dbSNP Clinvar
26677947 884.77 C T PASS 0/1 91 SYNONYMOUS_CODING LOW None 0.55851 0.55850 0.43894 None None None None None None ANO3|0.315688772|26.37%

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 7341maas0357_annotated 11 rs10794323
dbSNP Clinvar
428385 1104.77 A G PASS 1/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.92173 0.92170 0.15092 0.40 0.00 -2.19 None None None None None None ANO9|0.005315208|85.4%
View 7341maas0357_annotated 11 rs7395065
dbSNP Clinvar
433387 5649.77 A G PASS 1/1 186 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 7341maas0357_annotated 11 rs10794324
dbSNP Clinvar
428489 3657.77 T C PASS 1/1 113 NON_SYNONYMOUS_CODING MODERATE None 0.91893 0.91890 0.16818 1.00 0.00 -3.50 None None None None None None ANO9|0.005315208|85.4%

AP000769.1

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 7341maas0357_annotated 11 rs1784858
dbSNP Clinvar
65222952 5267.77 T C PASS 1/1 169 SYNONYMOUS_CODING LOW None 0.46605 0.46610 None None None None None None None

AP001024.1

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 7341maas0357_annotated 11 rs650686
dbSNP Clinvar
107650473 1337.77 G A PASS 1/1 42 SYNONYMOUS_CODING LOW None 0.66913 0.66910 None None None None None None None

AP003774.4

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 7341maas0357_annotated 11 rs76247963
dbSNP Clinvar
64217467 469.77 C G PASS 0/1 32 NON_SYNONYMOUS_CODING MODERATE None 0.01378 0.01378 0.00 None None None None None None None

AP2A2

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 7341maas0357_annotated 11 rs72842410
dbSNP Clinvar
1010649 1391.77 C T PASS 0/1 113 None None None 0.16673 0.16670 0.09533 0.26 0.00 0.33 None None None None None None AP2A2|0.023484891|72.44%
View 7341maas0357_annotated 11 rs10794358
dbSNP Clinvar
985547 2648.77 C T PASS 0/1 205 SYNONYMOUS_CODING LOW None 0.46106 0.46110 0.44776 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 7341maas0357_annotated 11 rs610037
dbSNP Clinvar
65546857 3217.75 A C PASS 1/1 94 SYNONYMOUS_CODING LOW None 0.45387 0.45390 0.43501 None None None None None None AP5B1|0.021769875|73.29%
View 7341maas0357_annotated 11 rs12146493
dbSNP Clinvar
65547333 1151.77 G A PASS 0/1 107 NON_SYNONYMOUS_CODING MODERATE None 0.30371 0.30370 0.35035 0.00 1.00 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 7341maas0357_annotated 11 rs2956114
dbSNP Clinvar
34937813 674.77 G A PASS 0/1 57 START_GAINED LOW None 0.43470 0.43470 0.31670 0.02 0.01 None None None None None None APIP|0.209674362|35.61%,PDHX|0.779810523|6.33%
View 7341maas0357_annotated 11 rs1977420
dbSNP Clinvar
34910397 265.77 C T PASS 0/1 25 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 7341maas0357_annotated 11 rs2986429
dbSNP Clinvar
34918375 2163.77 A G PASS 0/1 160 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 7341maas0357_annotated 11 rs1571133
dbSNP Clinvar
34909926 530.77 T G PASS 0/1 74 SYNONYMOUS_CODING LOW None 0.57947 0.57950 0.40185 None None None None None None APIP|0.209674362|35.61%

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 7341maas0357_annotated 11 rs5092
dbSNP Clinvar
116693464 5218.77 C T PASS 1/1 153 SYNONYMOUS_CODING LOW None 0.71985 0.71980 0.16146 None None None None None None APOA4|0.026315681|71.18%
View 7341maas0357_annotated 11 rs5110
dbSNP Clinvar
116691634 1773.77 C A PASS 0/1 134 NON_SYNONYMOUS_CODING MODERATE None 0.02376 0.02376 0.06082 0.08 0.00 None None None None None None APOA4|0.026315681|71.18%
View 7341maas0357_annotated 11 rs5104
dbSNP Clinvar
116692334 4867.77 C T PASS 1/1 141 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%

APOA5

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 7341maas0357_annotated 11 rs12287066
dbSNP Clinvar
116662331 843.77 G T PASS 0/1 57 SYNONYMOUS_CODING LOW None 0.09066 0.09065 0.10239 None None None None None None APOA5|0.044218283|64.44%
View 7341maas0357_annotated 11 rs3135506
dbSNP Clinvar
116662407 868.77 G C PASS 0/1 61 NON_SYNONYMOUS_CODING MODERATE None 0.05571 0.05571 0.06365 0.00 0.91 None None None None None None APOA5|0.044218283|64.44%

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 7341maas0357_annotated 11 rs4520
dbSNP Clinvar
116701535 1308.77 T C PASS 0/1 85 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 7341maas0357_annotated 11 rs12805218
dbSNP Clinvar
72396990 728.77 G A PASS 0/1 41 None None None 0.41354 0.41350 None None None None None None ARAP1|0.193135923|37.51%
View 7341maas0357_annotated 11 rs56200889
dbSNP Clinvar
72408055 671.77 G C PASS 0/1 73 NON_SYNONYMOUS_CODING MODERATE None 0.24920 0.24920 0.23554 0.29 0.06 None None None None None None ARAP1|0.193135923|37.51%

ARFGAP2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 7341maas0357_annotated 11 rs3740691
dbSNP Clinvar
47188411 4754.77 C T PASS 1/1 151 NON_SYNONYMOUS_CODING MODERATE None 0.38858 0.38860 0.41739 0.42 0.00 None None None None None None ARFGAP2|0.358971982|23.5%
View 7341maas0357_annotated 11 rs142683966
dbSNP Clinvar
47187044 568.77 C T PASS 0/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.00180 0.00180 0.00423 0.13 0.27 None None None None None None ARFGAP2|0.358971982|23.5%
View 7341maas0357_annotated 11 rs146117937
dbSNP Clinvar
47198125 1759.77 A G PASS 0/1 127 SYNONYMOUS_CODING LOW None 0.00100 None None None None None None ARFGAP2|0.358971982|23.5%

ARHGAP1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 7341maas0357_annotated 11 rs4268467
dbSNP Clinvar
46702920 4486.77 T C PASS 1/1 150 SYNONYMOUS_CODING LOW None 0.99920 0.99920 0.00139 None None None None None None ARHGAP1|0.356432776|23.73%

ARHGAP20

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 7341maas0357_annotated 11 rs10488765
dbSNP Clinvar
110451885 2654.77 A G PASS 0/1 205 SYNONYMOUS_CODING LOW None 0.05192 0.05192 0.06478 None None None None None None ARHGAP20|0.029035627|69.84%

ARHGAP32

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 7341maas0357_annotated 11 rs670440
dbSNP Clinvar
128868239 4259.77 T C PASS 1/1 134 SYNONYMOUS_CODING LOW None 0.57109 0.57110 0.33926 None None None None None None ARHGAP32|0.193856794|37.43%
View 7341maas0357_annotated 11 rs78856194
dbSNP Clinvar
128839405 1805.77 C T PASS 0/1 170 SYNONYMOUS_CODING LOW None 0.01478 0.01478 0.03063 6.28 0.33 0.91687 D None None None None ARHGAP32|0.193856794|37.43%

ARHGAP42

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 7341maas0357_annotated 11 rs79213484
dbSNP Clinvar
100803982 532.77 C T PASS 0/1 57 SYNONYMOUS_CODING LOW None 0.00819 0.00819 0.02300 None None None None None None ARHGAP42|0.236996835|32.7%

ARHGEF12

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 7341maas0357_annotated 11 rs766894
dbSNP Clinvar
120328858 3366.77 T C PASS 0/1 278 SYNONYMOUS_CODING LOW None 0.12480 0.12480 0.21835 None None None None None None ARHGEF12|0.378503864|22.14%

ARHGEF17

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 7341maas0357_annotated 11 rs3741149
dbSNP Clinvar
73021084 989.77 C T PASS 0/1 70 SYNONYMOUS_CODING LOW None 0.15695 0.15690 0.17758 None None None None None None ARHGEF17|0.03247462|68.39%
View 7341maas0357_annotated 11 rs3741151
dbSNP Clinvar
73020846 2568.77 G T PASS 0/1 203 NON_SYNONYMOUS_CODING MODERATE None 0.04892 0.04892 0.07551 0.01 0.15 None None None None None None ARHGEF17|0.03247462|68.39%
View 7341maas0357_annotated 11 rs113363731
dbSNP Clinvar
73020375 453.73 G GCTC PASS 0/1 26 CODON_INSERTION MODERATE None 0.29892 0.29890 0.34846 None None None None None None ARHGEF17|0.03247462|68.39%
View 7341maas0357_annotated 11 rs76764824
dbSNP Clinvar
73073580 386.77 C T PASS 0/1 24 SYNONYMOUS_CODING LOW None 0.04772 0.04772 0.07354 None None None None None None ARHGEF17|0.03247462|68.39%

ARNTL

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 7341maas0357_annotated 11 rs10741617
dbSNP Clinvar
13398129 5997.77 T A PASS 1/1 185 None None None 0.99082 0.99080 0.17 0.00 None None None None None None ARNTL|0.533066944|14.45%

ART1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 7341maas0357_annotated 11 rs2280134
dbSNP Clinvar
3681519 2870.77 T C PASS 1/1 93 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 7341maas0357_annotated 11 rs3062849
dbSNP Clinvar
3661585 10279.73 A ATGG PASS 1/1 229 CODON_INSERTION MODERATE None 0.96745 0.96750 0.03526 None None None None None None ART5|0.101580058|50.85%
View 7341maas0357_annotated 11 rs4910876
dbSNP Clinvar
3661140 1756.77 T C PASS 1/1 57 SYNONYMOUS_CODING LOW None 0.99062 0.99060 0.00823 None None None None None None ART5|0.101580058|50.85%

ASCL3

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 7341maas0357_annotated 11 rs4909951
dbSNP Clinvar
8959545 1860.77 C A PASS 1/1 54 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 7341maas0357_annotated 11 rs4910179
dbSNP Clinvar
8959511 1799.77 T G PASS 1/1 59 SYNONYMOUS_CODING LOW None 0.66074 0.66070 0.40317 None None None None None None ASCL3|0.117246772|47.89%

ATG16L2

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 7341maas0357_annotated 11 rs1864652
dbSNP Clinvar
72532621 1335.77 T G PASS 1/1 44 None None None 0.99920 0.99920 0.00 None None None None None None ATG16L2|0.066744827|58.21%

ATG2A

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 7341maas0357_annotated 11 rs656195
dbSNP Clinvar
64677293 880.77 G C PASS 1/1 27 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%

ATHL1

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 7341maas0357_annotated 11 rs10902120
dbSNP Clinvar
290816 1925.77 A G PASS 1/1 59 SYNONYMOUS_CODING LOW None 0.66653 0.66650 0.24873 None None None None None None ATHL1|0.004993482|85.83%