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+ Genes 639

Genes:
ABCC8, ACCSL, ACER3, ACP2, ACY3, ADAMTS15, ADAMTS8, AGBL2, AHNAK, AIP, AKIP1, ALDH3B2, ALKBH3, ALKBH8, ALX4, AMBRA1, AMICA1, AMOTL1, AMPD3, ANGPTL5, ANKK1, ANKRD13D, ANO1, ANO3, ANO5, ANO9, AP2A2, AP5B1, APIP, APLNR, APOA4, APOC3, ARAP1, ARFGAP2, ARHGAP1, ARHGAP32, ARHGEF12, ARL2, ART1, ART5, ASCL3, ATG2A, ATHL1, ATL3, ATM, B3GAT3, BACE1, BBOX1, BCL9L, BCO2, BDNF, BEST1, BRMS1, BRSK2, BSCL2, BTBD10, BTG4, BUD13, C11orf16, C11orf21, C11orf24, C11orf30, C11orf35, C11orf42, C11orf48, C11orf53, C11orf63, C11orf68, C11orf80, C11orf82, C11orf84, C2CD2L, C2CD3, CABP2, CALCA, CAPN1, CARD16, CARD17, CASP1, CASP4, CASP5, CATSPER1, CCDC34, CCDC67, CCDC73, CCDC81, CCDC82, CCDC83, CCDC87, CCDC88B, CCDC90B, CCND1, CD151, CD248, CD3E, CD44, CD5, CD6, CD82, CDC42BPG, CDHR5, CDON, CEP164, CEP57, CFL1, CHEK1, CHID1, CHORDC1, CHST1, CNTN5, COLCA2, CPSF7, CPT1A, CREB3L1, CRTAM, CSNK2A3, CTNND1, CTR9, CTSC, CTSF, CTSW, CUL5, CWF19L2, CXCR5, CYB5R2, CYP2R1, DAGLA, DAK, DCDC1, DCHS1, DCPS, DDB2, DDI1, DDX25, DEFB108B, DENND5A, DEPDC7, DHCR7, DKK3, DNAJB13, DNHD1, DPAGT1, DPP3, DRD2, DSCAML1, DYNC2H1, E2F8, EED, EEF1G, EFCAB4A, EFEMP2, EHBP1L1, EHD1, EIF1AD, EIF3F, EIF4G2, ELF5, EML3, ESAM, ETS1, EXPH5, F2, FAM160A2, FAM76B, FAM86C1, FDXACB1, FERMT3, FGF3, FKBP2, FLRT1, FOLH1, FOSL1, FSHB, GAL3ST3, GAS2, GDPD4, GLB1L2, GLB1L3, GLYAT, GRAMD1B, GRIK4, GRM5, GUCY1A2, GYLTL1B, HBB, HEPACAM, HEPHL1, HEPN1, HINFP, HPS5, HSD17B12, HSPA8, HTATIP2, HTR3A, HYOU1, IFITM1, IFITM2, IGHMBP2, IGSF22, IGSF9B, IL10RA, IL18BP, ILK, INCENP, INS, INSC, IPO7, KCNJ11, KCNJ5, KCNK4, KCTD14, KDM2A, KDM4D, KDM4E, KIAA1377, KIAA1549L, KIAA1731, KIF18A, KIRREL3, KLHL35, KRTAP5-1, KRTAP5-10, KRTAP5-2, KRTAP5-3, KRTAP5-5, KRTAP5-7, KRTAP5-8, KRTAP5-9, LAYN, LDHA, LDHC, LGR4, LIPT2, LMO1, LMO2, LPXN, LRP4, LRP5, LRRC32, LRRC55, LRRC56, LSP1, LUZP2, MADD, MAML2, MAP3K11, MCAM, ME3, MEN1, METTL12, METTL15, MFRP, MICAL2, MICALCL, MMP1, MMP10, MMP27, MMP3, MMP7, MMP8, MOB2, MOGAT2, MPEG1, MPZL3, MRE11A, MRGPRD, MRGPRE, MRGPRF, MRGPRX1, MRGPRX2, MRGPRX3, MRGPRX4, MRVI1, MS4A1, MS4A12, MS4A13, MS4A14, MS4A15, MS4A4A, MS4A5, MS4A6A, MS4A6E, MTCH2, MTMR2, MUC15, MUC5B, MUC6, MUS81, MYBPC3, MYEOV, MYO7A, MYRF, NAA40, NAALAD2, NAALADL1, NADSYN1, NAP1L4, NARS2, NAT10, NAV2, NCAPD3, NCR3LG1, NDUFC2, NDUFS3, NELL1, NEU3, NFRKB, NLRP10, NLRP14, NLRP6, NLRX1, NOX4, NPAS4, NPAT, NR1H3, NRXN2, NTM, NUCB2, NUDT22, NUDT8, NUP160, NUP98, NXF1, NXPE2, OAF, OLFML1, OMP, OR10A2, OR10A4, OR10A6, OR10AG1, OR10G4, OR10G7, OR10G9, OR10Q1, OR10V1, OR10W1, OR1S1, OR1S2, OR2AG1, OR2AG2, OR2D2, OR2D3, OR4A15, OR4A16, OR4B1, OR4C11, OR4C12, OR4C13, OR4C15, OR4C16, OR4C3, OR4D11, OR4D6, OR4P4, OR4S1, OR4S2, OR4X1, OR4X2, OR51A2, OR51A4, OR51A7, OR51B2, OR51B4, OR51B5, OR51B6, OR51D1, OR51E1, OR51E2, OR51G1, OR51G2, OR51I1, OR51I2, OR51L1, OR51M1, OR51Q1, OR51S1, OR51T1, OR51V1, OR52A1, OR52A5, OR52B4, OR52B6, OR52D1, OR52E2, OR52E4, OR52E6, OR52E8, OR52H1, OR52I1, OR52I2, OR52J3, OR52L1, OR52M1, OR52N1, OR52N2, OR52N4, OR52R1, OR52W1, OR56A1, OR56A3, OR56A4, OR56B1, OR56B4, OR5A1, OR5A2, OR5AK2, OR5AN1, OR5AR1, OR5AS1, OR5B12, OR5B17, OR5B2, OR5D13, OR5D14, OR5D16, OR5D18, OR5F1, OR5I1, OR5M1, OR5M10, OR5M11, OR5M3, OR5M9, OR5P2, OR5P3, OR5R1, OR5T1, OR5T2, OR5T3, OR5W2, OR6A2, OR6M1, OR6X1, OR8A1, OR8B3, OR8B4, OR8B8, OR8D1, OR8D4, OR8G5, OR8H1, OR8H2, OR8H3, OR8I2, OR8J1, OR8J3, OR8K1, OR8K3, OR8K5, OR8U1, OR9G1, OR9G4, OR9Q1, OSBPL5, OTOG, P2RY2, PANX1, PCNXL3, PDE2A, PDE3B, PDGFD, PDHX, PDZD3, PEX16, PGA3, PGM2L1, PGR, PHF21A, PHRF1, PICALM, PIDD, PIH1D2, PIK3C2A, PITPNM1, PKP3, PLCB3, PLEKHA7, POLD3, POLR2L, POU2F3, PPFIBP2, PPP1R32, PRDM10, PRDX5, PRG2, PRG3, PRKCDBP, PRMT3, PRR5L, PRRG4, PSMD13, PTGDR2, PTPMT1, PTPN5, PTPRJ, PUS3, PVRL1, QSER1, RAB38, RAPSN, RARRES3, RBMXL2, RCN1, RCOR2, RHOD, RIC3, RIC8A, RIN1, RNF141, ROBO3, ROBO4, ROM1, RPL27A, RPS6KA4, RRM1, RRP8, RTN3, SAA1, SAA2, SAA4, SAAL1, SART1, SCGB1C1, SCUBE2, SERGEF, SERPINH1, SF3B2, SIAE, SIDT2, SIGIRR, SIPA1, SLC15A3, SLC22A10, SLC22A12, SLC22A18, SLC22A25, SLC25A45, SLC36A4, SLC37A2, SLC39A13, SLC43A1, SLC5A12, SLC6A5, SLCO2B1, SMCO4, SMPD1, SNX15, SNX19, SORL1, SPATA19, SPTBN2, SPTY2D1, SSH3, SSRP1, ST14, ST3GAL4, ST5, STIM1, STK33, STX5, SUV420H1, SWAP70, SYT8, SYT9, SYTL2, TBX10, TCIRG1, TCP11L1, TEAD1, TECTA, TENM4, TH, TIMM10B, TM7SF2, TMEM123, TMEM133, TMEM135, TMEM136, TMEM216, TMEM225, TMEM25, TMEM262, TMPRSS13, TMPRSS4, TMPRSS5, TNKS1BP1, TNNI2, TOLLIP, TP53AIP1, TPCN2, TPP1, TRIM21, TRIM22, TRIM29, TRIM3, TRIM48, TRIM49, TRIM49B, TRIM49C, TRIM49D1, TRIM5, TRIM6, TRIM6-TRIM34, TRPM5, TSGA10IP, TSPAN32, TSPAN4, TSSC4, TTC12, TTC17, TTC9C, TUB, TYR, UBQLN3, UBQLNL, UCP2, UCP3, UPK2, USH1C, USP2, USP28, USP35, USP47, VWA5A, WDR74, WT1, XRRA1, ZBTB3, ZDHHC13, ZFP91, ZNF143, ZNF195, ZNF202, ZNF214, ZNF215, ZNF408, ZNHIT2, ZP1,

+ Genes associated with diseases 116

Genes at Omim

ABCC8, ACER3, ACP2, AIP, ALX4, AMPD3, ANO3, ANO5, APOC3, ATL3, ATM, B3GAT3, BEST1, BSCL2, C2CD3, CABP2, CAPN1, CATSPER1, CCND1, CD151, CD3E, CD44, CDON, CEP164, CEP57, CPT1A, CREB3L1, CTNND1, CTSC, CTSF, CYP2R1, DCHS1, DCPS, DDB2, DENND5A, DHCR7, DNAJB13, DPAGT1, DYNC2H1, EED, EFEMP2, EIF3F, EXPH5, F2, FERMT3, FGF3, FSHB, HBB, HEPACAM, HPS5, HYOU1, IGHMBP2, IL10RA, INS, KCNJ11, KCNJ5, LDHA, LGR4, LIPT2, LMO1, LMO2, LRP4, LRP5, LRRC56, MAML2, MEN1, MFRP, MMP1, MMP3, MRE11A, MS4A1, MTMR2, MUC5B, MYBPC3, MYO7A, MYRF, NARS2, NCAPD3, NDUFS3, NUP160, OTOG, PDHX, PEX16, PGR, PICALM, PTPRJ, PUS3, RAPSN, ROBO3, ROM1, SERPINH1, SIAE, SLC22A12, SLC39A13, SLC6A5, SMPD1, SPTBN2, ST14, STIM1, TCIRG1, TEAD1, TECTA, TENM4, TH, TMEM216, TNNI2, TPCN2, TPP1, TUB, TYR, UCP2, UCP3, USH1C, WT1, ZNF408, 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)
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)
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)
ATL3 Neuropathy, hereditary sensory, type IF, 615632 (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)
B3GAT3 Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, 245600 (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)
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)
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)
DENND5A Epileptic encephalopathy, early infantile, 49, 617281 (3)
DHCR7 Smith-Lemli-Opitz syndrome, 270400 (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)
EED Cohen-Gibson syndrome, 617561 (3)
EFEMP2 Cutis laxa, autosomal recessive, type IB, 614437 (3)
EIF3F Mental retardation, autosomal recessive 67, 618295 (3)
EXPH5 Epidermolysis bullosa, nonspecific, autosomal recessive, 615028 (3)
F2 Hypoprothrombinemia, 613679 (3)
Dysprothrombinemia, 613679 (3)
{Pregnancy loss, recurrent, susceptibility to, 2}, 614390 (3)
{Stroke, ischemic, susceptibility to}, 601367 (3)
Thrombophilia due to thrombin defect, 188050 (3)
FERMT3 Leukocyte adhesion deficiency, type III, 612840 (3)
FGF3 Deafness, congenital with inner ear agenesis, microtia, and microdontia, 610706 (3)
FSHB Hypogonadotropic hypogonadism 24 without anosmia, 229070 (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)
HPS5 Hermansky-Pudlak syndrome 5, 614074 (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)
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)
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)
MMP3 {Coronary heart disease, susceptibility to, 6}, 614466 (3)
MRE11A Ataxia-telangiectasia-like disorder 1, 604391 (3)
MS4A1 Immunodeficiency, common variable, 5, 613495 (3)
MTMR2 Charcot-Marie-Tooth disease, type 4B1, 601382 (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)
NCAPD3 Microcephaly 22, primary, autosomal recessive, 617984 (3)
NDUFS3 Mitochondrial complex I deficiency, nuclear type 8, 618230 (3)
NUP160 ?Nephrotic syndrome, type 19, 618178 (3)
OTOG Deafness, autosomal recessive 18B, 614945 (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)
PTPRJ Colon cancer, somatic, 114500 (3)
PUS3 Mental retardation, autosomal recessive 55, 617051 (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)
SERPINH1 {Preterm premature rupture of the membranes, susceptibility to}, 610504 (3)
Osteogenesis imperfecta, type X, 613848 (3)
SIAE {Autoimmune disease, susceptibility to, 6}, 613551 (3)
SLC22A12 Hypouricemia, renal, 220150 (3)
SLC39A13 Ehlers-Danlos syndrome, spondylodysplastic type, 3, 612350 (3)
SLC6A5 Hyperekplexia 3, 614618 (3)
SMPD1 Niemann-Pick disease, type A, 257200 (3)
Niemann-Pick disease, type B, 607616 (3)
SPTBN2 Spinocerebellar ataxia 5, 600224 (3)
Spinocerebellar ataxia, autosomal recessive 14, 615386 (3)
ST14 Ichthyosis, congenital, autosomal recessive 11, 602400 (3)
STIM1 Immunodeficiency 10, 612783 (3)
Myopathy, tubular aggregate, 1 160565 (3)
Stormorken syndrome, 185070 (3)
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)
TMEM216 Joubert syndrome 2, 608091 (3)
Meckel syndrome 2, 603194 (3)
TNNI2 Arthrogryposis multiplex congenita, distal, type 2B, 601680 (3)
TPCN2 [Skin/hair/eye pigmentation 10, blond/brown hair], 612267 (3)
TPP1 Ceroid lipofuscinosis, neuronal, 2, 204500 (3)
Spinocerebellar ataxia, autosomal recessive 7, 609270 (3)
TUB ?Retinal dystrophy and obesity, 616188 (3)
TYR Albinism, oculocutaneous, type IA, 203100 (3)
Albinism, oculocutaneous, type IB, 606952 (3)
{Melanoma, cutaneous malignant, susceptibility to, 8}, 601800 (3)
Waardenburg syndrome/albinism, digenic, 103470 (3)
[Skin/hair/eye pigmentation 3, blue/green eyes], 601800 (3)
[Skin/hair/eye pigmentation 3, light/dark/freckling skin], 601800 (3)
UCP2 {Obesity, susceptibility to, BMIQ4}, 607447 (3)
UCP3 {Obesity, severe, and type II diabetes}, 601665 (3)
USH1C Deafness, autosomal recessive 18A, 602092 (3)
Usher syndrome, type 1C, 276904 (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)
ZNF408 ?Exudative vitreoretinopathy 6, 616468 (3)
Retinitis pigmentosa 72, 616469 (3)
ZP1 Oocyte maturation defect 1, 615774 (3)

Genes at Clinical Genomics Database

ABCC8, AIP, ALX4, AMPD3, ANO3, ANO5, APOC3, ATL3, ATM, B3GAT3, BDNF, BEST1, BSCL2, C2CD3, CABP2, CAPN1, CD151, CD3E, CD44, CDON, CEP164, CEP57, CPT1A, CREB3L1, CTSC, CTSF, CYP2R1, DCHS1, DCPS, DDB2, DHCR7, DPAGT1, DRD2, DYNC2H1, EFEMP2, ESAM, EXPH5, F2, FERMT3, FGF3, FSHB, GRIK4, HBB, HEPACAM, HPS5, IGHMBP2, IL10RA, INS, KCNJ11, KCNJ5, KIRREL3, LDHA, LRP4, LRP5, MEN1, MFRP, MRE11A, MS4A1, MTMR2, MYBPC3, MYO7A, NARS2, NDUFS3, NPAT, OTOG, PDHX, PEX16, RAPSN, ROBO3, ROM1, SERPINH1, SLC22A12, SLC39A13, SLC6A5, SMPD1, SPTBN2, ST14, STIM1, TCIRG1, TEAD1, TECTA, TENM4, TH, TMEM216, TNNI2, TPCN2, TPP1, TUB, TYR, USH1C, WT1, ZNF408, ZP1,
ABCC8 Diabetes mellitus, transient neonatal, 2
Diabetes, permanent neonatal
Hyperinsulinemic hypoglycemia, familial, 1
Hypoglycemia, leucine-induced
AIP Pituitary adenoma, familial isolated
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
ATL3 Neuropathy, hereditary sensory, type IF
ATM Breast cancer, susceptibility to
Ataxia-Telangiectasia
B3GAT3 Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects
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
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
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
ESAM Schizophrenia
EXPH5 Epidermolysis bullosa, nonspecific, autosomal recessive
F2 Prothrombin deficiency, congenital
Thrombophilia due to thrombin defect
FERMT3 Leukocyte adhesion deficiency, type III
FGF3 Deafness, congenital with inner ear agenesis, microtia, and microdontia
FSHB Hypogonadotropic hypogonadism 24 without anosmia
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
HPS5 Hermansky-Pudlak syndrome 5
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
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
MEN1 Multiple endocrine neoplasia type I
Hyperparathyroidism, familial primary
MFRP Microphthalmia, isolated 5
Nanophthalmos 2
Retinitis pigmentosa, autosomal recessive
MRE11A Breast cancer, susceptibility to
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
NDUFS3 Mitochondrial complex I deficiency
Leigh syndrome
NPAT Nodular lymphocyte predominant Hodgkin lymphoma, familial
OTOG Deafness, autosomal recessive 18B
PDHX Pyruvate dehydrogenase E3-binding protein deficiency
PEX16 Peroxisome biogenesis factor disorder 16
RAPSN Myasthenic syndrome, congenital 11, associated with acetylcholine receptor deficiency
ROBO3 Gaze palsy, horizontal, with progressive scoliosis
ROM1 Retinitis pigmentosa 7, digenic
SERPINH1 Osteogenesis imperfecta, type X
SLC22A12 Hypouricemia, renal 1
SLC39A13 Spondylocheirodysplasia, Ehlers-Danlos syndrome-like
SLC6A5 Hyperekplexia 3
SMPD1 Niemann-Pick disease, type A
Niemann-Pick disease, type B
SPTBN2 Spinocerebellar ataxia 5, autosomal dominant
Spinocerebellar ataxia 14, autosomal recessive
ST14 Ichthyosis, congenital, autosomal recessive 11
STIM1 Stormorken syndrome
Immunodeficiency 10
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
TPCN2 Skin/hair/eye pigmentation, variation in, 10
TPP1 Ceroid lipofuscinosis, neuronal, 2
Spinocerebellar ataxia, autosomal recessive 7
TUB Retinal dystrophy and obesity
TYR Albinism, oculocutaneous, type IA
Albinism, oculocutaneous, type IB
USH1C Usher syndrome, type IC
Deafness, autosomal recessive 18A
WT1 Denys-Drash syndrome
Wilms tumor, type 1
Frasier syndrome
ZNF408 Exudative vitreoretinopathy 6
Retinitis pigmentosa 72
ZP1 Oocyte maturation defect 1

Genes at HGMD

Summary

Number of Variants: 3063
Number of Genes: 639

Export to: CSV

ABCC8
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2076 11 rs1799857
dbSNP Clinvar 		17452492 2543.48 G A PASS 0/1 19 SYNONYMOUS_CODING LOW None 0.42991 0.42990 0.45873 None None None None None None ABCC8|0.967482639|1.79%
View gordonsepilepsy filtered 2076 11 rs757110
dbSNP Clinvar 		17418477 7608.17 C A PASS 0/1 9 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 gordonsepilepsy filtered 2076 11 rs1799859
dbSNP Clinvar 		17419279 1866.17 C T PASS 0/1 12 SYNONYMOUS_CODING LOW None 0.39097 0.39100 0.40967 None None None None None None ABCC8|0.967482639|1.79%
View gordonsepilepsy filtered 2076 11 rs8192695
dbSNP Clinvar 		17491730 1117.17 G A PASS 0/1 26 SYNONYMOUS_CODING LOW None 0.06669 0.06669 0.06884 None None None None None None ABCC8|0.967482639|1.79%
View gordonsepilepsy filtered 2076 11 rs1799858
dbSNP Clinvar 		17449929 6055.7 C T PASS 1/1 17 SYNONYMOUS_CODING LOW None 0.20208 0.20210 0.15671 None None None None None None ABCC8|0.967482639|1.79%

ACCSL
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2076 11 rs2074051
dbSNP Clinvar 		44080210 8081.68 T C PASS 1/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.79433 0.79430 0.20556 1.00 0.00 None None None None None None ACCSL|0.002111959|90.7%

ACER3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2076 11 rs3740767
dbSNP Clinvar 		76701606 5625.5 G A PASS 0/1 85 SYNONYMOUS_CODING LOW None 0.53295 0.53290 0.40072 None None None None None None ACER3|0.282744715|28.9%
View gordonsepilepsy filtered 2076 11 rs4479014
dbSNP Clinvar 		76637680 10483.5 G A PASS 0/1 60 SYNONYMOUS_CODING LOW None 0.50379 0.50380 0.41728 None None None None None None ACER3|0.282744715|28.9%
View gordonsepilepsy filtered 2076 11 rs4379869
dbSNP Clinvar 		76637651 11026.5 G A PASS 0/1 67 NON_SYNONYMOUS_CODING MODERATE None 0.62959 0.62960 0.29506 1.00 0.00 None None None None None None ACER3|0.282744715|28.9%

ACP2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2076 11 rs2242261
dbSNP Clinvar 		47266808 1802.92 T G PASS 0/1 47 None None None 0.36222 0.36220 0.23273 0.27 0.11 None None None None None None ACP2|0.186646535|38.21%
View gordonsepilepsy filtered 2076 11 rs4752973
dbSNP Clinvar 		47269159 1285.92 T C PASS 0/1 18 None None None 0.41114 0.41110 0.26443 None None None None None None ACP2|0.186646535|38.21%
View gordonsepilepsy filtered 2076 11 rs2167079
dbSNP Clinvar 		47270255 1713.73 C T PASS 0/1 5 NON_SYNONYMOUS_CODING MODERATE None 0.51697 0.51700 0.37987 0.89 0.00 None None None None None None ACP2|0.186646535|38.21%,NR1H3|0.14717228|43.45%

ACY3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2076 11 rs948445
dbSNP Clinvar 		67414492 1569.56 C T PASS 1/1 2 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
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 gordonsepilepsy filtered 2076 11 rs731446
dbSNP Clinvar 		130339312 1888.61 T C PASS 0/1 13 SYNONYMOUS_CODING LOW None 0.56550 0.56550 0.33033 None None None None None None ADAMTS15|0.184066185|38.46%

ADAMTS8
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2076 11 rs10548872
dbSNP Clinvar 		130298117 2133.77 GGCA G,... PASS 1/1 2 CODON_INSERTION MODERATE None 0.07728 0.47700 0.51250 None None None None None None ADAMTS8|0.042125202|65.07%
View gordonsepilepsy filtered 2076 11 rs61754851
dbSNP Clinvar 		130278773 4749.5 C T PASS 0/1 45 NON_SYNONYMOUS_CODING MODERATE None 0.00280 0.00280 0.00844 0.04 1.00 None None None None None None ADAMTS8|0.042125202|65.07%

AGBL2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2076 11 rs12286721
dbSNP Clinvar 		47701528 4020.48 C A PASS 1/1 42 NON_SYNONYMOUS_CODING MODERATE None 0.58067 0.58070 0.43045 0.07 0.00 None None None None None None AGBL2|0.048331714|63.19%

AHNAK
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2076 11 rs566144
dbSNP Clinvar 		62292882 27174.7 G T PASS 1/1 147 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.00 None None None None None None AHNAK|0.340600581|24.81%
View gordonsepilepsy filtered 2076 11 rs141117375
dbSNP Clinvar 		62294309 2570.17 C T PASS 0/1 146 NON_SYNONYMOUS_CODING MODERATE None 0.01238 0.01238 0.03069 0.97 None None None None None None AHNAK|0.340600581|24.81%
View gordonsepilepsy filtered 2076 11 rs149802489
dbSNP Clinvar 		62300930 1959.17 C T PASS 0/1 62 NON_SYNONYMOUS_CODING MODERATE None 0.00040 0.00040 0.00077 0.70 None None None None None None AHNAK|0.340600581|24.81%
View gordonsepilepsy filtered 2076 11 rs486903
dbSNP Clinvar 		62293948 19606.2 G A PASS 0/1 167 SYNONYMOUS_CODING LOW None 0.47304 0.47300 0.44170 None None None None None None AHNAK|0.340600581|24.81%

AIP
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2076 11 rs4930199
dbSNP Clinvar 		67258391 13318.8 A G PASS 1/1 3 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 gordonsepilepsy filtered 2076 11 rs641081
dbSNP Clinvar 		67257823 9999.68 C A PASS 1/1 16 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%

AKIP1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2076 11 rs2016844
dbSNP Clinvar 		8938934 9337.68 C T PASS 1/1 15 None None None 0.26717 0.26720 0.27951 0.01 0.00 None None None None None None AKIP1|0.01527686|76.95%
View gordonsepilepsy filtered 2076 11 rs1133833
dbSNP Clinvar 		8933064 6945.95 G A PASS 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.12061 0.12060 0.18627 0.22 0.16 None None None None None None AKIP1|0.01527686|76.95%

ALDH3B2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2076 11 rs1551888
dbSNP Clinvar 		67433869 16004.9 C T PASS 1/1 2 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 gordonsepilepsy filtered 2076 11 rs6591270
dbSNP Clinvar 		67432854 13914.7 T C PASS 1/1 59 NON_SYNONYMOUS_CODING MODERATE None 0.93610 0.93610 0.06433 1.00 0.00 None None None None None None ALDH3B2|0.012437844|78.93%
View gordonsepilepsy filtered 2076 11 rs2447571
dbSNP Clinvar 		67432804 16383.7 T C PASS 1/1 53 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 gordonsepilepsy filtered 2076 11 rs1551886
dbSNP Clinvar 		67430762 7262.68 T C PASS 1/1 10 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%

ALKBH3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2076 11 rs1048928
dbSNP Clinvar 		43940644 952.17 G T PASS 0/1 42 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.61621 0.61620 0.46456 None None None None None None ALKBH3|0.085956572|53.95%
View gordonsepilepsy filtered 2076 11 rs1130290
dbSNP Clinvar 		43940602 4746.7 C G PASS 0/1 37 NON_SYNONYMOUS_CODING MODERATE None 0.13898 0.13900 0.20575 0.02 0.99 None None None None None None ALKBH3|0.085956572|53.95%
View gordonsepilepsy filtered 2076 11 rs2434478
dbSNP Clinvar 		43911365 9817.68 T C PASS 1/1 38 SYNONYMOUS_CODING LOW None 0.99760 0.99760 0.00323 None None None None None None ALKBH3|0.085956572|53.95%

ALKBH8
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2076 11 rs645056
dbSNP Clinvar 		107420530 21770.7 A G PASS 1/1 39 SYNONYMOUS_CODING LOW None 0.71146 0.71150 0.22383 None None None None None None ALKBH8|0.091746155|52.88%

ALX4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2076 11 rs3802805
dbSNP Clinvar 		44286566 7071.92 G A PASS 0/1 16 SYNONYMOUS_CODING LOW None 0.35843 0.35840 0.27461 None None None None None None ALX4|0.690991356|8.75%
View gordonsepilepsy filtered 2076 11 rs10769028
dbSNP Clinvar 		44297054 32572.7 T C PASS 1/1 45 SYNONYMOUS_CODING LOW None 0.99161 0.99160 0.00877 None None None None None None ALX4|0.690991356|8.75%

AMBRA1
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 gordonsepilepsy filtered 2076 11 rs61999319
dbSNP Clinvar 		46456444 713.17 G A PASS 0/1 9 SYNONYMOUS_CODING LOW None 0.00759 0.00759 0.01769 None None None None None None AMBRA1|0.69937554|8.5%

AMICA1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2076 11 rs1793174
dbSNP Clinvar 		118074337 11956.7 A G PASS 1/1 57 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 gordonsepilepsy filtered 2076 11 rs17121881
dbSNP Clinvar 		118081345 4002.48 A T PASS 1/1 60 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%

AMOTL1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2076 11 rs11020968
dbSNP Clinvar 		94602414 2275.17 C T PASS 0/1 39 NON_SYNONYMOUS_CODING MODERATE None 0.09225 0.09225 0.07900 0.39 0.17 None None None None None None AMOTL1|0.091559982|52.93%

AMPD3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2076 11 rs3741041
dbSNP Clinvar 		10521764 4301.48 T C PASS 1/1 42 SYNONYMOUS_CODING LOW None 0.36741 0.36740 0.31447 None None None None None None AMPD3|0.504907229|15.58%
View gordonsepilepsy filtered 2076 11 . 10527262 309.29 A G PASS 0/1 28 NON_SYNONYMOUS_CODING MODERATE None 0.40 0.01 None None None None None None AMPD3|0.504907229|15.58%

ANGPTL5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2076 11 rs3858418
dbSNP Clinvar 		101771248 21989.7 G A PASS 1/1 54 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 gordonsepilepsy filtered 2076 11 rs2734848
dbSNP Clinvar 		113270374 9156.18 C T PASS 0/1 8 SYNONYMOUS_CODING LOW None 0.00060 0.00060 0.24391 None None None None None None ANKK1|0.031328783|68.87%
View gordonsepilepsy filtered 2076 11 rs11604671
dbSNP Clinvar 		113268059 1964.48 G A PASS 0/1 7 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 gordonsepilepsy filtered 2076 11 rs2734849
dbSNP Clinvar 		113270160 4425.48 A G PASS 0/1 26 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 gordonsepilepsy filtered 2076 11 rs17115439
dbSNP Clinvar 		113264272 9427.7 T C PASS 0/1 71 SYNONYMOUS_CODING LOW None 0.52596 0.52600 0.39937 None None None None None None ANKK1|0.031328783|68.87%
View gordonsepilepsy filtered 2076 11 rs4938016
dbSNP Clinvar 		113270015 10165.9 G C PASS 0/1 6 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 gordonsepilepsy filtered 2076 11 rs4938013
dbSNP Clinvar 		113264470 5679.7 A C PASS 0/1 43 SYNONYMOUS_CODING LOW None 0.66054 0.66050 0.28420 None None None None None None ANKK1|0.031328783|68.87%
View gordonsepilepsy filtered 2076 11 rs35877321
dbSNP Clinvar 		113264382 1581.17 G A PASS 0/1 31 NON_SYNONYMOUS_CODING MODERATE None 0.00419 0.00419 0.00942 0.31 0.02 None None None None None None ANKK1|0.031328783|68.87%

ANKRD13D
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2076 11 rs2298815
dbSNP Clinvar 		67068859 22894.7 T C PASS 1/1 21 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
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2076 11 rs2276067
dbSNP Clinvar 		70007392 13856.2 A G PASS 0/1 51 SYNONYMOUS_CODING LOW None 0.65815 0.65810 0.36090 None None None None None None ANO1|0.129436977|45.95%
View gordonsepilepsy filtered 2076 11 rs2276066
dbSNP Clinvar 		70007311 9493.17 A G PASS 0/1 48 SYNONYMOUS_CODING LOW None 0.60324 0.60320 0.41343 None None None None None None ANO1|0.129436977|45.95%

ANO3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2076 11 rs2663168
dbSNP Clinvar 		26568966 25871.7 A G PASS 1/1 111 SYNONYMOUS_CODING LOW None 0.67512 0.67510 0.34930 None None None None None None ANO3|0.315688772|26.37%
View gordonsepilepsy filtered 2076 11 rs10835051
dbSNP Clinvar 		26677947 7760.92 C T PASS 1/1 73 SYNONYMOUS_CODING LOW None 0.55851 0.55850 0.43894 None None None None None None ANO3|0.315688772|26.37%
View gordonsepilepsy filtered 2076 11 rs7946841
dbSNP Clinvar 		26656563 4875.7 C T PASS 0/1 24 SYNONYMOUS_CODING LOW None 0.34125 0.34130 0.35535 None None None None None None ANO3|0.315688772|26.37%

ANO5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2076 11 rs4312063
dbSNP Clinvar 		22242729 3164.7 T C PASS 1/1 21 SYNONYMOUS_CODING LOW None 0.78994 0.78990 0.15557 None None None None None None ANO5|0.057436384|60.57%
View gordonsepilepsy filtered 2076 11 rs7481951
dbSNP Clinvar 		22271870 726.17 A T PASS 0/1 29 NON_SYNONYMOUS_CODING MODERATE None 0.44864 0.11 0.04 None None None None None None ANO5|0.057436384|60.57%

ANO9
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2076 11 rs7395065
dbSNP Clinvar 		433387 18689.7 A G PASS 1/1 16 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 gordonsepilepsy filtered 2076 11 rs10794323
dbSNP Clinvar 		428385 5435.92 A G PASS 0/1 18 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 gordonsepilepsy filtered 2076 11 rs10794324
dbSNP Clinvar 		428489 11360.9 T C PASS 0/1 17 NON_SYNONYMOUS_CODING MODERATE None 0.91893 0.91890 0.16818 1.00 0.00 -3.50 None None None None None None ANO9|0.005315208|85.4%

AP2A2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2076 11 rs10794358
dbSNP Clinvar 		985547 15790.2 C T PASS 1/1 39 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 gordonsepilepsy filtered 2076 11 rs12146493
dbSNP Clinvar 		65547333 10594.7 G A PASS 0/1 23 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%
View gordonsepilepsy filtered 2076 11 rs610037
dbSNP Clinvar 		65546857 5539.71 A C PASS 0/1 4 SYNONYMOUS_CODING LOW None 0.45387 0.45390 0.43501 None None None None None None AP5B1|0.021769875|73.29%
View gordonsepilepsy filtered 2076 11 rs12362011
dbSNP Clinvar 		65547455 4061.7 C A PASS 0/1 6 NON_SYNONYMOUS_CODING MODERATE None 0.14018 0.14020 0.11367 0.04 0.88 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 gordonsepilepsy filtered 2076 11 rs61734605
dbSNP Clinvar 		34916657 4571.92 C T PASS 0/1 47 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.11462 0.11460 0.24946 0.07 0.05 None None None None None None APIP|0.209674362|35.61%
View gordonsepilepsy filtered 2076 11 rs1571133
dbSNP Clinvar 		34909926 8661.17 T G PASS 0/1 58 SYNONYMOUS_CODING LOW None 0.57947 0.57950 0.40185 None None None None None None APIP|0.209674362|35.61%

APLNR
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2076 11 rs948847
dbSNP Clinvar 		57004344 5652.5 G T PASS 0/1 33 SYNONYMOUS_CODING LOW None 0.58467 0.58470 0.48438 None None None None None None APLNR|0.396612969|20.99%

APOA4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2076 11 rs675
dbSNP Clinvar 		116691675 1446.17 T A PASS 0/1 14 NON_SYNONYMOUS_CODING MODERATE None 0.00040 0.09884 0.16854 0.36 0.01 None None None None None None APOA4|0.026315681|71.18%
View gordonsepilepsy filtered 2076 11 rs5092
dbSNP Clinvar 		116693464 10147.9 C T PASS 1/1 53 SYNONYMOUS_CODING LOW None 0.71985 0.71980 0.16146 None None None None None None APOA4|0.026315681|71.18%
View gordonsepilepsy filtered 2076 11 rs5104
dbSNP Clinvar 		116692334 8181.92 C T PASS 1/1 12 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%

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 gordonsepilepsy filtered 2076 11 rs4520
dbSNP Clinvar 		116701535 6886.92 T C PASS 1/1 15 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 gordonsepilepsy filtered 2076 11 rs2306615
dbSNP Clinvar 		72415329 863.92 G A PASS 0/1 6 SYNONYMOUS_CODING LOW None 0.10623 0.10620 0.07015 None None None None None None ARAP1|0.193135923|37.51%
View gordonsepilepsy filtered 2076 11 rs2291289
dbSNP Clinvar 		72408657 5236.7 C T PASS 0/1 44 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
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2076 11 rs4752820
dbSNP Clinvar 		47188314 20429.7 T C PASS 1/1 98 SYNONYMOUS_CODING LOW None 0.99880 0.99880 0.00185 None None None None None None ARFGAP2|0.358971982|23.5%

ARHGAP1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2076 11 rs4268467
dbSNP Clinvar 		46702920 15958.7 T C PASS 1/1 33 SYNONYMOUS_CODING LOW None 0.99920 0.99920 0.00139 None None None None None None ARHGAP1|0.356432776|23.73%

ARHGAP32
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2076 11 rs670440
dbSNP Clinvar 		128868239 13895.9 T C PASS 0/1 84 SYNONYMOUS_CODING LOW None 0.57109 0.57110 0.33926 None None None None None None ARHGAP32|0.193856794|37.43%
View gordonsepilepsy filtered 2076 11 rs60847789
dbSNP Clinvar 		128839526 4615.92 C G PASS 0/1 19 NON_SYNONYMOUS_CODING MODERATE None 0.08906 0.08906 0.09118 0.05 0.05 None None None None None None ARHGAP32|0.193856794|37.43%
View gordonsepilepsy filtered 2076 11 rs3740829
dbSNP Clinvar 		128839156 5035.92 T C PASS 0/1 20 SYNONYMOUS_CODING LOW None 0.07548 0.07548 0.07856 5.73 0.09 0.75642 D None None None None ARHGAP32|0.193856794|37.43%

ARHGEF12
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2076 11 rs2305013
dbSNP Clinvar 		120340060 5506.92 A T PASS 0/1 46 NON_SYNONYMOUS_CODING MODERATE None 0.06330 0.06330 0.03847 0.12 0.01 None None None None None None ARHGEF12|0.378503864|22.14%

ARL2
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 gordonsepilepsy filtered 2076 11 rs664226
dbSNP Clinvar 		64789194 2103.93 T C PASS 1/1 9 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%

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 gordonsepilepsy filtered 2076 11 rs2280134
dbSNP Clinvar 		3681519 10801.9 T C PASS 1/1 27 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 gordonsepilepsy filtered 2076 11 rs3062849
dbSNP Clinvar 		3661585 28268.7 A ATGG PASS 1/1 10 CODON_INSERTION MODERATE None 0.96745 0.96750 0.03526 None None None None None None ART5|0.101580058|50.85%
View gordonsepilepsy filtered 2076 11 rs4910876
dbSNP Clinvar 		3661140 20140.7 T C PASS 1/1 33 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 gordonsepilepsy filtered 2076 11 rs2742505
dbSNP Clinvar 		8959370 16233.7 G A PASS 1/1 39 SYNONYMOUS_CODING LOW None 0.26817 0.26820 0.27809 None None None None None None ASCL3|0.117246772|47.89%

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 gordonsepilepsy filtered 2076 11 rs61742063
dbSNP Clinvar 		64665358 1538.92 T G PASS 0/1 5 SYNONYMOUS_CODING LOW None 0.08606 0.08606 0.10197 None None None None None None ATG2A|0.043961932|64.54%
View gordonsepilepsy filtered 2076 11 rs77802938
dbSNP Clinvar 		64662849 1216.92 A G PASS 0/1 7 SYNONYMOUS_CODING LOW None 0.05172 0.05172 0.06585 None None None None None None ATG2A|0.043961932|64.54%
View gordonsepilepsy filtered 2076 11 rs61741079
dbSNP Clinvar 		64665394 1719.92 T C PASS 0/1 9 SYNONYMOUS_CODING LOW None 0.08586 0.08586 0.09983 None None None None None None ATG2A|0.043961932|64.54%
View gordonsepilepsy filtered 2076 11 rs35115827
dbSNP Clinvar 		64679362 679.6 G A PASS 0/1 5 NON_SYNONYMOUS_CODING MODERATE None 0.06669 0.06669 0.08095 0.10 0.28 None None None None None None ATG2A|0.043961932|64.54%
View gordonsepilepsy filtered 2076 11 rs656195
dbSNP Clinvar 		64677293 12204.7 G C PASS 1/1 18 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 gordonsepilepsy filtered 2076 11 rs618006
dbSNP Clinvar 		64680819 645.07 G A PASS 0/1 7 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
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View gordonsepilepsy filtered 2076 11 rs12801980
dbSNP Clinvar 		293188 16910.7 T C PASS 1/1 94 SYNONYMOUS_CODING LOW None 0.40076 0.40080 0.33854 None None None None None None ATHL1|0.004993482|85.83%
View gordonsepilepsy filtered 2076 11 rs10902120
dbSNP Clinvar 		290816 9121.68 A G PASS 1/1 13 SYNONYMOUS_CODING LOW None 0.66653 0.66650 0.24873 None None None None None None ATHL1|0.004993482|85.83%
View gordonsepilepsy filtered 2076 11 rs182102503
dbSNP Clinvar 		290466 529.22 C T PASS 0/1 5 SYNONYMOUS_CODING LOW None 0.00280 0.00280 0.00746 None None None None None None ATHL1|0.004993482|85.83%
View gordonsepilepsy filtered 2076 11 rs72636978
dbSNP Clinvar 		290918 6413.7 G A PASS 0/1 11 SYNONYMOUS_CODING LOW None 0.18091 0.18090 0.08350 None None None None None None ATHL1|0.004993482|85.83%
View gordonsepilepsy filtered 2076 11 rs72636977
dbSNP Clinvar 		290891 6725.7 T C PASS 0/1 8 SYNONYMOUS_CODING LOW None 0.18490 0.18490 0.08573 None None None None None None ATHL1|0.004993482|85.83%

ATL3
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 gordonsepilepsy filtered 2076 11 rs200419000
dbSNP Clinvar 		63426570 74.29 A C PASS 0/1 92 SYNONYMOUS_CODING LOW None None None None None None None ATL3|0.126031529|46.47%

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 gordonsepilepsy filtered 2076 11 rs587780628
dbSNP Clinvar 		108175544 54.06 C G PASS 0/1 21 NON_SYNONYMOUS_CODING MODERATE None 0.10 0.00 None None None None None None ATM|0.992666029|0.97%
View gordonsepilepsy filtered 2076 11 rs659243
dbSNP Clinvar 		108183167 12330.7 A G PASS 1/1 93 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%
View gordonsepilepsy filtered 2076 11 rs1801516
dbSNP Clinvar 		108175462 1666.17 G A PASS 0/1 28 NON_SYNONYMOUS_CODING MODERATE None 0.06689 0.06689 0.10232 0.08 0.03 None None None None None None ATM|0.992666029|0.97%

B3GAT3
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 gordonsepilepsy filtered 2076 11 rs745645272
dbSNP Clinvar 		62384256 1048.17 G A PASS 0/1 30 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.00 0.76 None None None None None None B3GAT3|0.217213529|34.7%