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+ Genes 663

Genes:
ABCC8, ACAT1, ACCS, ACCSL, ACER3, ACP2, ACTN3, ACY3, ADAMTS15, ADAMTS8, ADRBK1, AGBL2, AHNAK, AIP, AKIP1, ALDH3B1, ALDH3B2, ALG9, ALKBH3, ALKBH8, ALX4, AMICA1, AMOTL1, AMPD3, ANGPTL5, ANKK1, ANKRD13D, ANKRD49, ANO1, ANO3, ANO5, ANO9, AP2A2, AP5B1, APIP, APLNR, APOA4, APOA5, APOC3, ARAP1, ARCN1, ARFGAP2, ARHGAP1, ARHGAP32, ARHGEF12, ARL2, ARRB1, ART1, ART5, ASCL3, ATG2A, ATHL1, ATM, B3GNT6, B4GALNT4, BACE1, BBOX1, BBS1, BCL9L, BCO2, BDNF, BEST1, BRMS1, BRSK2, BTG4, BUD13, C11orf16, C11orf21, C11orf24, C11orf30, C11orf35, C11orf40, C11orf42, C11orf52, C11orf68, C11orf80, C11orf82, C11orf83, C11orf84, C11orf91, C11orf94, C11orf96, C1QTNF4, C2CD3, CABP2, CALCA, CAPN1, CARD16, CARD17, CASP1, CASP4, CASP5, CAT, CATSPER1, CCDC67, CCDC81, CCDC86, CCDC87, CCDC88B, CCDC90B, CCND1, CD151, CD248, CD3E, CD3G, CD44, CD5, CD6, CD82, CDC42BPG, CDHR5, CDKN1C, CDON, CEP164, CFL1, CHEK1, CHID1, CHORDC1, CHRDL2, CHRM4, CHST1, CKAP5, CNGA4, CNTN5, CPSF7, CPT1A, CREB3L1, CRTAM, CSNK2A3, CST6, CTNND1, CTR9, CTSC, CTSF, CTSW, CUL5, CWC15, CWF19L2, CYB5R2, CYP2R1, DAGLA, DAK, DCDC1, DCHS1, DCPS, DDB2, DDI1, DDX10, DEAF1, DEFB108B, DEPDC7, DGKZ, DHCR7, DIXDC1, DKK3, DLAT, DNAJB13, DNHD1, DPP3, DRD4, DSCAML1, DTX4, DUSP8, DYNC2H1, EED, EFCAB4A, EFEMP2, EHBP1L1, EHD1, EHF, EI24, EIF3F, EIF4G2, ELF5, ENDOD1, EPS8L2, ESRRA, EXPH5, F2, FADS3, FAM160A2, FAM181B, FAM76B, FAM86C1, FBXO3, FDXACB1, FKBP2, FLI1, FLRT1, FOSL1, FRMD8, FSHB, FUT4, FZD4, GAB2, GAL3ST3, GALNT18, GAS2, GDPD4, GDPD5, GLB1L3, GLYAT, GLYATL2, GRAMD1B, GRIA4, GRIK4, GRM5, GSTP1, GUCY1A2, GYLTL1B, HBB, HEPACAM, HEPHL1, HINFP, HMBS, HNRNPUL2, HPS5, HRAS, HRASLS5, HSD17B12, HSPA8, HTATIP2, HTR3A, HTR3B, HYOU1, IFITM1, IFITM2, IFITM3, IFT46, IGHMBP2, IGSF22, IGSF9B, IL10RA, ILK, INCENP, INS-IGF2, INSC, IPO7, IRF7, KBTBD3, KCNJ11, KCNJ5, KCNK4, KCNK7, KCNQ1, KCTD14, KDM2A, KDM4E, KIAA1377, KIAA1549L, KIAA1731, KIRREL3, KLC2, KLHL35, KMT2A, KRTAP5-1, KRTAP5-10, KRTAP5-2, KRTAP5-3, KRTAP5-5, KRTAP5-7, KRTAP5-8, LAYN, LDHA, LDHC, LGR4, LIPT2, LMO2, LRP4, LRP5, LRRC10B, LRRC32, LRRC4C, LRRC56, LSP1, LTBP3, MACROD1, MADD, MAML2, MED17, MEN1, MFRP, MICAL2, MICALCL, MMP1, MMP10, MMP20, MMP27, MMP3, MMP8, MOB2, MOGAT2, MPZL3, MRGPRD, MRGPRE, MRGPRF, MRGPRX1, MRGPRX3, MRGPRX4, MRPL23, MRVI1, MS4A12, MS4A13, MS4A14, MS4A15, MS4A3, MS4A4A, MS4A6A, MS4A7, MTCH2, MUC5AC, MUC5B, MUC6, MUS81, MYBPC3, MYEOV, MYO7A, MYRF, NAA40, NAALAD2, NADSYN1, NARS2, NAT10, NAV2, NCAM1, NCR3LG1, NDUFC2, NELL1, NFRKB, NLRP14, NLRP6, NOX4, NPAS4, NPAT, NR1H3, NRXN2, NTM, NUCB2, NUDT22, NUDT8, NUMA1, NUP160, NUP98, NXF1, NXPE1, NXPE2, NXPE4, OAF, OLFML1, OR10A2, OR10A6, OR10G4, OR10G7, OR10G8, OR10G9, OR10Q1, OR10S1, OR10V1, OR1S1, OR1S2, OR2AG1, OR2AG2, OR2D2, OR2D3, OR4A15, OR4A16, OR4A47, OR4B1, OR4C12, OR4C13, OR4C15, OR4C16, OR4C3, OR4C46, OR4C6, OR4D11, OR4D6, OR4P4, OR4X1, OR51A2, OR51A4, OR51A7, OR51B2, OR51B4, OR51B5, OR51E1, OR51E2, OR51F2, OR51G1, OR51I1, OR51I2, OR51L1, OR51M1, OR51S1, OR51V1, OR52A1, OR52B6, OR52D1, OR52E2, OR52E4, OR52E6, OR52H1, OR52I1, OR52I2, OR52J3, OR52K1, OR52L1, OR52N1, OR52N2, OR52N4, OR52R1, OR52W1, OR56B1, OR5A1, OR5AK2, OR5AN1, OR5AR1, OR5AS1, OR5B12, OR5B17, OR5B2, OR5B3, OR5D13, OR5D14, OR5D16, OR5D18, OR5F1, OR5M1, OR5M10, OR5M11, OR5P3, OR5R1, OR5T1, OR5T2, OR5W2, OR6A2, OR6M1, OR6Q1, OR6X1, OR8A1, OR8B2, OR8B3, OR8B8, OR8D4, OR8G1, OR8G5, OR8H1, OR8H2, OR8H3, OR8J1, OR8K1, OR8K3, OR8U1, OR9G1, OR9G4, OR9Q1, OR9Q2, OSBPL5, OTOG, OVCH2, P2RX3, P2RY2, PAAF1, PAFAH1B2, PANX1, PATE1, PCNXL3, PCSK7, PDDC1, PDE2A, PDE3B, PDGFD, PDHX, PELI3, PEX16, PGA3, PHRF1, PICALM, PIDD, PIH1D2, PIK3C2A, PITPNM1, PIWIL4, PKP3, PLCB3, PLEKHA7, PLET1, PNPLA2, POLR2L, POU2F3, PPFIBP2, PPP1R32, PRCP, PRDM10, PRDM11, PRDX5, PRG2, PRG3, PRKCDBP, PRMT3, PRPF19, PRR5L, PTGDR2, PTH, PTPN5, PTPRJ, PUS3, PVRL1, QSER1, RAB38, RAB3IL1, RAPSN, RARRES3, RBMXL2, RCN1, RCOR2, RHOD, RIC8A, RIN1, RNF141, RNH1, ROBO3, ROBO4, ROM1, RPL27A, RPS6KB2, RPUSD4, RRM1, RRP8, RTN3, SAA1, SAA2, SAA4, SAC3D1, SART1, SBF2, SCGB1C1, SCGB1D2, SCN3B, SCUBE2, SERGEF, SERPINH1, SHANK2, SIGIRR, SIK3, SIPA1, SLC15A3, SLC22A10, SLC22A12, SLC22A18, SLC22A18AS, SLC22A24, SLC25A45, SLC36A4, SLC37A2, SLC39A13, SLC3A2, SLC5A12, SLC6A5, SLCO2B1, SMCO4, SMPD1, SMTNL1, SNX15, SNX19, SNX32, SORL1, SOX6, SPTBN2, SPTY2D1, SRSF8, ST14, ST5, STIM1, STK33, STT3A, SUV420H1, SWAP70, SYT8, SYT9, SYTL2, TAGLN, TBX10, TCIRG1, TCN1, TCP11L1, TEAD1, TECTA, TENM4, TH, TIRAP, TM7SF2, TMEM109, TMEM132A, TMEM133, TMEM135, TMEM136, TMEM216, TMEM225, TMEM25, TMEM262, TMEM80, TMPRSS13, TMPRSS4, TMPRSS5, TNKS1BP1, TNNI2, TOLLIP, TP53AIP1, TPCN2, TPP1, TREH, TRIM22, TRIM29, TRIM48, TRIM49, TRIM49B, TRIM49C, TRIM49D1, TRIM5, TRIM6, TRIM6-TRIM34, TRIM64C, TRIM77, TRPC6, TRPM5, TSG101, TSGA10IP, TSKU, TSPAN18, TSPAN32, TSPAN4, TSSC4, TUB, TYR, UBASH3B, UBQLN3, UBQLNL, UCP2, UCP3, UEVLD, UNC93B1, USH1C, USP2, USP28, USP35, USP47, VEGFB, VPS11, VPS37C, VWA5A, WT1, ZDHHC13, ZDHHC24, ZFP91, ZNF143, ZNF195, ZNF202, ZNF214, ZNF215, ZNF408, ZNHIT2, ZP1,

+ Genes associated with diseases 138

Genes at Omim

ABCC8, ACAT1, ACER3, ACP2, ACTN3, AIP, ALG9, ALX4, AMPD3, ANO3, ANO5, APOA5, APOC3, ARCN1, ATM, BBS1, BEST1, C2CD3, CABP2, CAPN1, CAT, CATSPER1, CCND1, CD151, CD3E, CD3G, CD44, CDKN1C, CDON, CEP164, CPT1A, CREB3L1, CTNND1, CTSC, CTSF, CYP2R1, DCHS1, DCPS, DDB2, DEAF1, DHCR7, DLAT, DNAJB13, DRD4, DYNC2H1, EED, EFEMP2, EIF3F, EPS8L2, EXPH5, F2, FLI1, FSHB, FZD4, GRIA4, HBB, HEPACAM, HMBS, HPS5, HRAS, HYOU1, IFITM3, IGHMBP2, IL10RA, IRF7, KCNJ11, KCNJ5, KCNQ1, KLC2, KMT2A, LDHA, LGR4, LIPT2, LMO2, LRP4, LRP5, LRRC56, LTBP3, MAML2, MED17, MEN1, MFRP, MMP1, MMP20, MMP3, MUC5B, MYBPC3, MYO7A, MYRF, NARS2, NUMA1, NUP160, OTOG, PDHX, PEX16, PICALM, PNPLA2, PTH, PTPRJ, PUS3, RAPSN, ROBO3, ROM1, SBF2, SCN3B, SERPINH1, SHANK2, SIK3, SLC22A12, SLC39A13, SLC6A5, SMPD1, SPTBN2, ST14, STIM1, STT3A, TCIRG1, TEAD1, TECTA, TENM4, TH, TIRAP, TMEM216, TNNI2, TPCN2, TPP1, TREH, TRPC6, TUB, TYR, UCP2, UCP3, UNC93B1, USH1C, VPS11, 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)
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)
ALG9 Gillessen-Kaesbach-Nishimura syndrome, 263210 (3)
Congenital disorder of glycosylation, type Il, 608776 (3)
ALX4 Frontonasal dysplasia 2, 613451 (3)
Parietal foramina 2, 609597 (3)
{Craniosynostosis 5, susceptibility to}, 615529 (3)
AMPD3 [AMP deaminase deficiency, erythrocytic], 612874 (3)
ANO3 Dystonia 24, 615034 (3)
ANO5 Gnathodiaphyseal dysplasia, 166260 (3)
Miyoshi muscular dystrophy 3, 613319 (3)
Muscular dystrophy, limb-girdle, autosomal recessive 12, 611307 (3)
APOA5 {Hypertriglyceridemia, susceptibility to}, 145750 (3)
Hyperchylomicronemia, late-onset, 144650 (3)
APOC3 Apolipoprotein C-III deficiency, 614028 (3)
ARCN1 Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay, 617164 (3)
ATM Ataxia-telangiectasia, 208900 (3)
Lymphoma, B-cell non-Hodgkin, somatic (3)
Lymphoma, mantle cell, somatic (3)
T-cell prolymphocytic leukemia, somatic (3)
{Breast cancer, susceptibility to}, 114480 (3)
BBS1 Bardet-Biedl syndrome 1, 209900 (3)
BEST1 Bestrophinopathy, autosomal recessive, 611809 (3)
Macular dystrophy, vitelliform, 2, 153700 (3)
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma, 193220 (3)
Retinitis pigmentosa, concentric, 613194 (3)
Retinitis pigmentosa-50, 613194 (3)
Vitreoretinochoroidopathy, 193220 (3)
C2CD3 ?Orofaciodigital syndrome XIV, 615948 (3)
CABP2 Deafness, autosomal recessive 93, 614899 (3)
CAPN1 Spastic paraplegia 76, autosomal recessive, 616907 (3)
CAT Acatalasemia, 614097 (3)
CATSPER1 Spermatogenic failure 7, 612997 (3)
CCND1 {Multiple myeloma, susceptibility to}, 254500 (3)
{von Hippel-Lindau syndrome, modifier of}, 193300 (3)
{Colorectal cancer, susceptibility to}, 114500 (3)
CD151 Nephropathy with pretibial epidermolysis bullosa and deafness, 609057 (3)
[Blood group, Raph], 179620 (3)
CD3E Immunodeficiency 18, 615615 (3)
Immunodeficiency 18, SCID variant, 615615 (3)
CD3G Immunodeficiency 17, CD3 gamma deficient, 615607 (3)
CD44 [Blood group, Indian system], 609027 (3)
CDKN1C Beckwith-Wiedemann syndrome, 130650 (3)
IMAGE syndrome, 614732 (3)
CDON Holoprosencephaly 11, 614226 (3)
CEP164 Nephronophthisis 15, 614845 (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)
DEAF1 ?Dyskinesia, seizures, and intellectual developmental disorder, 617171 (3)
Mental retardation, autosomal dominant 24, 615828 (3)
DHCR7 Smith-Lemli-Opitz syndrome, 270400 (3)
DLAT Pyruvate dehydrogenase E2 deficiency, 245348 (3)
DNAJB13 Ciliary dyskinesia, primary, 34, 617091 (3)
DRD4 Autonomic nervous system dysfunction (3)
[Novelty seeking personality], 601696 (1)
{Attention deficit-hyperactivity disorder}, 143465 (3)
DYNC2H1 Short-rib thoracic dysplasia 3 with or without polydactyly, 613091 (3)
EED Cohen-Gibson syndrome, 617561 (3)
EFEMP2 Cutis laxa, autosomal recessive, type IB, 614437 (3)
EIF3F Mental retardation, autosomal recessive 67, 618295 (3)
EPS8L2 Deafness autosomal recessive 106, 617637 (3)
EXPH5 Epidermolysis bullosa, nonspecific, autosomal recessive, 615028 (3)
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)
FLI1 Bleeding disorder, platelet-type, 21, 617443 (3)
FSHB Hypogonadotropic hypogonadism 24 without anosmia, 229070 (3)
FZD4 Exudative vitreoretinopathy 1, 133780 (3)
Retinopathy of prematurity, 133780 (3)
GRIA4 Neurodevelopmental disorder with or without seizures and gait abnormalities, 617864 (3)
HBB Heinz body anemia, 140700 (3)
Hereditary persistence of fetal hemoglobin, 141749 (3)
{Malaria, resistance to}, 611162 (3)
Delta-beta thalassemia, 141749 (3)
Erythrocytosis 6, 617980 (3)
Methmoglobinemia, beta type, 617971 (3)
Sickle cell anemia, 603903 (3)
Thalassemia, beta, 613985 (3)
Thalassemia-beta, dominant inclusion-body, 603902 (3)
HEPACAM Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925 (3)
Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926 (3)
HMBS Porphyria, acute intermittent, 176000 (3)
Porphyria, acute intermittent, nonerythroid variant, 176000 (3)
HPS5 Hermansky-Pudlak syndrome 5, 614074 (3)
HRAS Bladder cancer, somatic, 109800 (3)
Congenital myopathy with excess of muscle spindles, 218040 (3)
Costello syndrome, 218040 (3)
Nevus sebaceous or woolly hair nevus, somatic, 162900 (3)
Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3)
Spitz nevus or nevus spilus, somatic, 137550 (3)
Thyroid carcinoma, follicular, somatic, 188470 (3)
HYOU1 ?Immunodeficiency 59 and hypoglycemia, 233600 (3)
IFITM3 {Influenza, severe, susceptibility to}, 614680 (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)
IRF7 ?Immunodeficiency 39, 616345 (3)
KCNJ11 Hyperinsulinemic hypoglycemia, familial, 2, 601820 (3)
Diabetes mellitus, transient neonatal, 3, 610582 (3)
Diabetes, permanent neonatal, with or without neurologic features, 606176 (3)
Maturity-onset diabetes of the young, type 13, 616329 (3)
{Diabetes mellitus, type 2, susceptibility to}, 125853 (3)
KCNJ5 Hyperaldosteronism, familial, type III, 613677 (3)
Long QT syndrome 13, 613485 (3)
KCNQ1 Atrial fibrillation, familial, 3, 607554 (3)
{Long QT syndrome 1, acquired, susceptibility to}, 192500 (3)
Long QT syndrome 1, 192500 (3)
Jervell and Lange-Nielsen syndrome, 220400 (3)
Short QT syndrome 2, 609621 (3)
KLC2 Spastic paraplegia, optic atrophy, and neuropathy, 609541 (3)
KMT2A Leukemia, myeloid/lymphoid or mixed-lineage (2)
Wiedemann-Steiner syndrome, 605130 (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)
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)
LTBP3 Geleophysic dysplasia 3, 617809 (3)
Dental anomalies and short stature, 601216 (3)
MAML2 Mucoepidermoid salivary gland carcinoma (3)
MED17 Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 (3)
MEN1 Adrenal adenoma, somatic (3)
Angiofibroma, somatic (3)
Carcinoid tumor of lung (3)
Lipoma, somatic (3)
Multiple endocrine neoplasia 1, 131100 (3)
Parathyroid adenoma, somatic (3)
MFRP Microphthalmia, isolated 5, 611040 (3)
Nanophthalmos 2, 609549 (3)
MMP1 COPD, rate of decline of lung function in, 606963 (3)
{Epidermolysis bullosa dystrophica, autosomal recessive, modifier of}, 226600 (3)
MMP20 Amelogenesis imperfecta, type IIA2, 612529 (3)
MMP3 {Coronary heart disease, susceptibility to, 6}, 614466 (3)
MUC5B {Pulmonary fibrosis, idiopathic, susceptibility to}, 178500 (3)
MYBPC3 Cardiomyopathy, dilated, 1MM, 615396 (3)
Cardiomyopathy, hypertrophic, 4, 115197 (3)
Left ventricular noncompaction 10, 615396 (3)
MYO7A Deafness, autosomal dominant 11, 601317 (3)
Deafness, autosomal recessive 2, 600060 (3)
Usher syndrome, type 1B, 276900 (3)
MYRF Cardiac-urogenital syndrome, 618280 (3)
Encephalitis/encephalopathy, mild, with reversible myelin vacuolization, 618113 (3)
NARS2 Combined oxidative phosphorylation deficiency 24, 616239 (3)
NUMA1 Leukemia, acute promyelocytic, somatic, 612376 (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)
PICALM Leukemia, acute myeloid, somatic, 601626 (3)
PNPLA2 Neutral lipid storage disease with myopathy, 610717 (3)
PTH Hypoparathyroidism, autosomal dominant, 146200 (3)
Hypoparathyroidism, autosomal recessive, 146200 (3)
PTPRJ Colon cancer, somatic, 114500 (3)
PUS3 Mental retardation, autosomal recessive 55, 617051 (3)
RAPSN Fetal akinesia deformation sequence, 208150 (3)
Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, 616326 (3)
ROBO3 Gaze palsy, familial horizontal, with progressive scoliosis, 1, 607313 (3)
ROM1 Retinitis pigmentosa 7, digenic form, 608133 (3)
SBF2 Charcot-Marie-Tooth disease, type 4B2, 604563 (3)
SCN3B Atrial fibrillation, familial, 16, 613120 (3)
Brugada syndrome 7, 613120 (3)
SERPINH1 {Preterm premature rupture of the membranes, susceptibility to}, 610504 (3)
Osteogenesis imperfecta, type X, 613848 (3)
SHANK2 {Autism susceptibility 17}, 613436 (3)
SIK3 ?Spondyloepimetaphyseal dysplasia, Krakow type, 618162 (3)
SLC22A12 Hypouricemia, renal, 220150 (3)
SLC39A13 Ehlers-Danlos syndrome, spondylodysplastic type, 3, 612350 (3)
SLC6A5 Hyperekplexia 3, 614618 (3)
SMPD1 Niemann-Pick disease, type A, 257200 (3)
Niemann-Pick disease, type B, 607616 (3)
SPTBN2 Spinocerebellar ataxia 5, 600224 (3)
Spinocerebellar ataxia, autosomal recessive 14, 615386 (3)
ST14 Ichthyosis, congenital, autosomal recessive 11, 602400 (3)
STIM1 Immunodeficiency 10, 612783 (3)
Myopathy, tubular aggregate, 1 160565 (3)
Stormorken syndrome, 185070 (3)
STT3A ?Congenital disorder of glycosylation, type Iw, 615596 (3)
TCIRG1 Osteopetrosis, autosomal recessive 1, 259700 (3)
TEAD1 Sveinsson chorioretinal atrophy, 108985 (3)
TECTA Deafness, autosomal dominant 8/12, 601543 (3)
Deafness, autosomal recessive 21, 603629 (3)
TENM4 Essential tremor, hereditary, 5, 616736 (3)
TH Segawa syndrome, recessive, 605407 (3)
TIRAP {Malaria, protection against}, 611162 (3)
{Pneumococcal disease, invasive, protection against}, 610799 (3)
{Tuberculosis, protection against}, 607948 (3)
{Bacteremia, protection against}, 614382 (3)
TMEM216 Joubert syndrome 2, 608091 (3)
Meckel syndrome 2, 603194 (3)
TNNI2 Arthrogryposis multiplex congenita, distal, type 2B, 601680 (3)
TPCN2 [Skin/hair/eye pigmentation 10, blond/brown hair], 612267 (3)
TPP1 Ceroid lipofuscinosis, neuronal, 2, 204500 (3)
Spinocerebellar ataxia, autosomal recessive 7, 609270 (3)
TREH Trehalase deficiency, 612119 (3)
TRPC6 Glomerulosclerosis, focal segmental, 2, 603965 (3)
TUB ?Retinal dystrophy and obesity, 616188 (3)
TYR Albinism, oculocutaneous, type IA, 203100 (3)
Albinism, oculocutaneous, type IB, 606952 (3)
{Melanoma, cutaneous malignant, susceptibility to, 8}, 601800 (3)
Waardenburg syndrome/albinism, digenic, 103470 (3)
[Skin/hair/eye pigmentation 3, blue/green eyes], 601800 (3)
[Skin/hair/eye pigmentation 3, light/dark/freckling skin], 601800 (3)
UCP2 {Obesity, susceptibility to, BMIQ4}, 607447 (3)
UCP3 {Obesity, severe, and type II diabetes}, 601665 (3)
UNC93B1 {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 1}, 610551 (3)
USH1C Deafness, autosomal recessive 18A, 602092 (3)
Usher syndrome, type 1C, 276904 (3)
VPS11 Leukodystrophy, hypomyelinating, 12, 616683 (3)
WT1 Frasier syndrome, 136680 (3)
Denys-Drash syndrome, 194080 (3)
Meacham syndrome, 608978 (3)
Mesothelioma, somatic, 156240 (3)
Nephrotic syndrome, type 4, 256370 (3)
Wilms tumor, type 1, 194070 (3)
ZNF408 ?Exudative vitreoretinopathy 6, 616468 (3)
Retinitis pigmentosa 72, 616469 (3)
ZP1 Oocyte maturation defect 1, 615774 (3)

Genes at Clinical Genomics Database

ABCC8, ACAT1, AIP, ALG9, ALX4, AMPD3, ANO3, ANO5, APOA5, APOC3, ATM, BBS1, BDNF, BEST1, C2CD3, CABP2, CAPN1, CAT, CD151, CD3E, CD3G, CD44, CDKN1C, CDON, CEP164, CPT1A, CREB3L1, CTSC, CTSF, CYP2R1, DCHS1, DCPS, DDB2, DEAF1, DHCR7, DLAT, DYNC2H1, EFEMP2, EXPH5, F2, FLI1, FSHB, FZD4, GRIK4, HBB, HEPACAM, HMBS, HPS5, HRAS, IGHMBP2, IL10RA, IRF7, KCNJ11, KCNJ5, KCNQ1, KIRREL3, KLC2, KMT2A, LDHA, LRP4, LRP5, LTBP3, MED17, MEN1, MFRP, MMP20, MYBPC3, MYO7A, NARS2, NPAT, OTOG, PDHX, PEX16, PNPLA2, PTH, RAPSN, ROBO3, ROM1, SBF2, SCN3B, SERPINH1, SHANK2, SLC22A12, SLC39A13, SLC6A5, SMPD1, SPTBN2, ST14, STIM1, STT3A, TCIRG1, TEAD1, TECTA, TENM4, TH, TMEM216, TNNI2, TPCN2, TPP1, TRPC6, TUB, TYR, UNC93B1, USH1C, VPS11, WT1, ZNF408, ZP1,
ABCC8 Diabetes mellitus, transient neonatal, 2
Diabetes, permanent neonatal
Hyperinsulinemic hypoglycemia, familial, 1
Hypoglycemia, leucine-induced
ACAT1 Alpha-methylacetoacetic aciduria
AIP Pituitary adenoma, familial isolated
ALG9 Congenital disorder of glycosylation, type Il
ALX4 Parietal foramina 2
Frontonasal dysplasia 2
AMPD3 Erythrocytic AMP deaminase deficiency
ANO3 Craniocervical dystonia, autosomal dominant (Dystonia 24)
ANO5 Gnathodiaphyseal dysplasia
APOA5 Hyperchylomicronemia
APOC3 Apolipoprotein C-III deficiency
ATM Breast cancer, susceptibility to
Ataxia-Telangiectasia
BBS1 Bardet-Biedl syndrome 1
BDNF Central hypoventilation syndrome, congenital
BEST1 Vitreoretinochoroidopathy
Microcornea, rod-cone dystrophy, cataract, and posterior staphyloma
C2CD3 Orofaciodigital syndrome XIV
CABP2 Deafness, autosomal recessive 93
CAPN1 Spastic paraplegia 76, autosomal recessive
CAT Acatalasemia
CD151 Raph blood group
CD3E Immunodeficiency 18
CD3G Immunodeficiency 17
CD44 Blood group, Indian
CDKN1C IMAGE syndrome
Beckwith-Wiedemann syndrome
CDON Holoprosencephaly 11
CEP164 Nephronophthisis 15
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
DEAF1 Mental retardation, autosomal dominant 24
DHCR7 Smith-Lemli-Opitz syndrome
DLAT Pyruvate dehydrogenase E2 deficiency
DYNC2H1 Short-rib thoracic dysplasia 3 with or without polydactyly
EFEMP2 Cutis laxa, autosomal recessive type IB
EXPH5 Epidermolysis bullosa, nonspecific, autosomal recessive
F2 Prothrombin deficiency, congenital
Thrombophilia due to thrombin defect
FLI1 Thrombocytopenia, Paris-Trousseau type
FSHB Hypogonadotropic hypogonadism 24 without anosmia
FZD4 Exudative vitreoretinopathy 1
Retinopathy of prematurity
GRIK4 Response to antidepressant treatment with citalopram
HBB Beta-thalassemia
Sickle cell disease
Thalassemia-beta, dominant inclusion body
Other Thalassemias/Hemoglobinopathies
HEPACAM Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation
Megalencephalic leukoencephalopathy with subcortical cysts 2A
HMBS Hydroxymethylbilane synthase deficiency
Porphyria, acute intermittent
HPS5 Hermansky-Pudlak syndrome 5
HRAS Costello syndrome
Congenital myopathy with excess of muscle spindles
IGHMBP2 Spinal muscular atrophy, distal, autosomal recessive, 1
Charcot-Marie-Tooth disease, axonal, type 2S
IL10RA Inflammatory bowel disease 28, autosomal recessive
IRF7 Immunodeficiency 39
KCNJ11 Hyperinsulinemic hypoglycemia, familial, 2
Diabetes mellitus, transient neonatal, 3
Diabetes, permanent neonatal
Diabetes, permanent neonatal, with Neurologic features
KCNJ5 Long QT syndrome 13
Hyperaldosteronism, familial, type III
KCNQ1 Long QT syndrome 1
Jervell and Lange-Nielsen syndrome 1
Short QT syndrome 2
Atrial fibrillation, familial 3
KIRREL3 Mental retardation, autosomal dominant 4
KLC2 Spastic paraplegia, optic atrophy, and neuropathy
KMT2A Wiedemann-Steiner syndrome
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
LTBP3 Dental anomalies and short stature
MED17 Microcephaly, postnatal progressive, with seizures and brain atrophy
MEN1 Multiple endocrine neoplasia type I
Hyperparathyroidism, familial primary
MFRP Microphthalmia, isolated 5
Nanophthalmos 2
Retinitis pigmentosa, autosomal recessive
MMP20 Amelogenesis imperfecta, hypomaturation type, IIA2
MYBPC3 Cardiomyopathy, familial hypertrophic, 4
Cardiomyopathy, dilated, 1MM
Left ventricular noncompaction 10
MYO7A Deafness, autosomal recessive 2
Usher syndrome, type 1B
NARS2 Combined oxidative phosphorylation deficiency 24
NPAT Nodular lymphocyte predominant Hodgkin lymphoma, familial
OTOG Deafness, autosomal recessive 18B
PDHX Pyruvate dehydrogenase E3-binding protein deficiency
PEX16 Peroxisome biogenesis factor disorder 16
PNPLA2 Neutral lipid storage disease with myopathy
PTH Hypoparathyroidism, familial isolated
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
SCN3B Brugada syndrome 7
Atrial fibrillation, familial 16
SERPINH1 Osteogenesis imperfecta, type X
SHANK2 Autism, susceptibility to 17
SLC22A12 Hypouricemia, renal 1
SLC39A13 Spondylocheirodysplasia, Ehlers-Danlos syndrome-like
SLC6A5 Hyperekplexia 3
SMPD1 Niemann-Pick disease, type A
Niemann-Pick disease, type B
SPTBN2 Spinocerebellar ataxia 5, autosomal dominant
Spinocerebellar ataxia 14, autosomal recessive
ST14 Ichthyosis, congenital, autosomal recessive 11
STIM1 Stormorken syndrome
Immunodeficiency 10
STT3A Congenital disorder of glycosylation, type Iw
TCIRG1 Osteopetrosis, autosomal recessive 1
TEAD1 Sveinsson choreoretinal atrophy
TECTA Deafness, autosomal recessive 21
Deafness, autosomal dominant 8/12
TENM4 Tremor, hereditary essential, 5
TH Segawa syndrome, autosomal recessive
TMEM216 Joubert syndrome 2
Meckel syndrome 2
TNNI2 Arthrogryposis multiplex congenita, distal, type 2B
TPCN2 Skin/hair/eye pigmentation, variation in, 10
TPP1 Ceroid lipofuscinosis, neuronal, 2
Spinocerebellar ataxia, autosomal recessive 7
TRPC6 Focal segmental glomerulosclerosis 2
TUB Retinal dystrophy and obesity
TYR Albinism, oculocutaneous, type IA
Albinism, oculocutaneous, type IB
UNC93B1 Herpes simplex encephalitis, susceptibility to, 1
USH1C Usher syndrome, type IC
Deafness, autosomal recessive 18A
VPS11 Leukodystrophy, hypomyelinating 12
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: 2031
Number of Genes: 663

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 f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs757110
dbSNP Clinvar 		17418477 1516.6 C A PASS 0/1 117 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.72644 0.72640 0.26144 0.63 0.00 None None None None None None ABCC8|0.967482639|1.79%
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs1799858
dbSNP Clinvar 		17449929 2859.03 C T PASS 1/1 100 SYNONYMOUS_CODING LOW SILENT 0.20208 0.20210 0.15671 None None None None None None ABCC8|0.967482639|1.79%
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs1799857
dbSNP Clinvar 		17452492 2004.03 G A PASS 1/1 72 SYNONYMOUS_CODING LOW SILENT 0.42991 0.42990 0.45873 None None None None None None ABCC8|0.967482639|1.79%
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs1799859
dbSNP Clinvar 		17419279 884.6 C T PASS 0/1 79 SYNONYMOUS_CODING LOW SILENT 0.39097 0.39100 0.40967 None None None None None None ABCC8|0.967482639|1.79%
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs1048099
dbSNP Clinvar 		17496516 1216.6 A G PASS 0/1 154 SYNONYMOUS_CODING LOW SILENT 0.43930 0.43930 0.47682 None None None None None None ABCC8|0.967482639|1.79%

ACAT1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs3741056
dbSNP Clinvar 		107992346 541.6 G C PASS 0/1 53 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.33187 0.33190 0.20971 0.02 0.10 None None None None None None ACAT1|0.138678583|44.58%

ACCS
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs7950395
dbSNP Clinvar 		44101118 1562.6 C T PASS 0/1 106 SYNONYMOUS_CODING LOW SILENT 0.11422 0.11420 0.13063 None None None None None None ACCS|0.034927707|67.49%
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs3107275
dbSNP Clinvar 		44104981 1179.6 C T PASS 0/1 98 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.40375 0.40380 0.41512 0.23 0.03 None None None None None None ACCS|0.034927707|67.49%

ACCSL
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs2074051
dbSNP Clinvar 		44080210 2616.03 T C PASS 1/1 89 NON_SYNONYMOUS_CODING MODERATE MISSENSE 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 f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs4479014
dbSNP Clinvar 		76637680 355.77 G A PASS 0/1 15 SYNONYMOUS_CODING LOW SILENT 0.50379 0.50380 0.41728 None None None None None None ACER3|0.282744715|28.9%
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs4379869
dbSNP Clinvar 		76637651 363.77 G A PASS 0/1 15 NON_SYNONYMOUS_CODING MODERATE MISSENSE 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 f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs2167079
dbSNP Clinvar 		47270255 1064.6 C T PASS 0/1 96 NON_SYNONYMOUS_CODING MODERATE MISSENSE 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
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 f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs540874
dbSNP Clinvar 		66329732 1112.6 A G PASS 0/1 92 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.58307 0.58310 0.37179 1.00 0.00 None None None None None None None
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs1671064
dbSNP Clinvar 		66327673 1415.6 G A PASS 0/1 98 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.58646 0.58650 0.36660 1.00 0.00 None None None None None None None
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs1815739
dbSNP Clinvar 		66328095 1693.6 T C PASS 0/1 122 STOP_LOST HIGH MISSENSE 0.59924 0.59920 0.35908 None None None None None None None
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs618838
dbSNP Clinvar 		66328719 568.6 T C PASS 0/1 80 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.60024 0.60020 0.36450 1.00 0.00 None None None None None None None

ACY3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs948445
dbSNP Clinvar 		67414492 1467.03 C T PASS 1/1 49 NON_SYNONYMOUS_CODING MODERATE MISSENSE 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 f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs731446
dbSNP Clinvar 		130339312 3471.03 T C PASS 1/1 120 SYNONYMOUS_CODING LOW SILENT 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 f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs7942034
dbSNP Clinvar 		130297957 253.6 T C PASS 0/1 31 SYNONYMOUS_CODING LOW SILENT 0.91374 0.91370 0.11270 None None None None None None ADAMTS8|0.042125202|65.07%

ADRBK1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs2228418
dbSNP Clinvar 		67034266 230.6 C A PASS 0/1 36 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.64876 0.64880 0.25747 None None None None None None ADRBK1|0.645969984|10.23%

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 f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs12286721
dbSNP Clinvar 		47701528 1414.03 C A PASS 1/1 49 NON_SYNONYMOUS_CODING MODERATE MISSENSE 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 f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs75436331
dbSNP Clinvar 		62297447 1594.6 T C PASS 0/1 123 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03255 0.03255 0.04061 0.05 0.28 None None None None None None AHNAK|0.340600581|24.81%
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs61312994
dbSNP Clinvar 		62285441 1432.6 A G PASS 0/1 112 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03255 0.03255 0.04038 0.00 0.49 None None None None None None AHNAK|0.340600581|24.81%
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs61625484
dbSNP Clinvar 		62285665 1602.6 C T PASS 0/1 151 SYNONYMOUS_CODING LOW SILENT 0.04393 0.04393 0.04930 None None None None None None AHNAK|0.340600581|24.81%
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs12292433
dbSNP Clinvar 		62287828 862.6 T C PASS 0/1 82 SYNONYMOUS_CODING LOW SILENT 0.04473 0.04473 0.04999 None None None None None None AHNAK|0.340600581|24.81%
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs11231128
dbSNP Clinvar 		62290719 1157.6 A G PASS 0/1 119 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04473 0.04473 0.04999 1.00 0.00 None None None None None None AHNAK|0.340600581|24.81%
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs138857191
dbSNP Clinvar 		62291407 1145.6 T C PASS 0/1 101 SYNONYMOUS_CODING LOW SILENT 0.00008 None None None None None None AHNAK|0.340600581|24.81%
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs566144
dbSNP Clinvar 		62292882 2424.03 G T PASS 1/1 77 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00000 1.00000 1.00 0.00 None None None None None None AHNAK|0.340600581|24.81%
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs145871196
dbSNP Clinvar 		62295361 1238.6 C A PASS 0/1 116 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02636 0.02636 0.03223 0.39 0.00 None None None None None None AHNAK|0.340600581|24.81%
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs77055528
dbSNP Clinvar 		62296535 2034.6 T C PASS 0/1 156 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.03974 0.03974 0.04592 0.02 0.41 None None None None None None AHNAK|0.340600581|24.81%
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs74853209
dbSNP Clinvar 		62296601 1692.6 T C PASS 0/1 126 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04433 0.04433 0.04945 0.04 0.94 None None None None None None AHNAK|0.340600581|24.81%
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs75855515
dbSNP Clinvar 		62297162 1292.6 G A PASS 0/1 118 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.02656 0.02656 0.03238 0.15 0.49 None None None None None None AHNAK|0.340600581|24.81%
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs145590149,rs113658672,rs377504333
dbSNP Clinvar 		62303555 1334.64 T TCTC PASS 0/1 51 CODON_INSERTION MODERATE 0.08586 0.08586 0.09227 None None None None None None AHNAK|0.340600581|24.81%
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs11231130
dbSNP Clinvar 		62299945 1353.6 A C PASS 0/1 113 SYNONYMOUS_CODING LOW SILENT 0.08427 0.08427 0.09029 None None None None None None AHNAK|0.340600581|24.81%
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs11555629
dbSNP Clinvar 		62284468 1331.6 A C PASS 0/1 128 SYNONYMOUS_CODING LOW SILENT 0.04473 0.04473 0.04522 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 f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs641081
dbSNP Clinvar 		67257823 2619.03 C A PASS 1/1 90 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.84545 0.84540 0.16574 1.00 0.00 None None None None None None AIP|0.191995289|37.6%
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs4930199
dbSNP Clinvar 		67258391 2191.03 A G PASS 1/1 76 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99940 0.99940 0.00023 1.00 0.00 None None None None None None AIP|0.191995289|37.6%

AKIP1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs1133833
dbSNP Clinvar 		8933064 1865.6 G A PASS 0/1 171 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.12061 0.12060 0.18627 0.22 0.09 None None None None None None AKIP1|0.01527686|76.95%

ALDH3B1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs11433668,rs397777471
dbSNP Clinvar 		67786064 2863.06 A AC PASS 1/1 77 None None None 1.00000 1.00000 0.00224 None None None None None None ALDH3B1|0.033093329|68.12%
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs11436139,rs58238184
dbSNP Clinvar 		67795378 2457.06 G GC PASS 1/1 70 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 0.99980 0.99980 0.00424 None None None None None None ALDH3B1|0.033093329|68.12%
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs3751082
dbSNP Clinvar 		67795353 994.6 G A PASS 0/1 97 SYNONYMOUS_CODING LOW SILENT 0.17832 0.17830 0.16968 None None None None None None ALDH3B1|0.033093329|68.12%
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs308341
dbSNP Clinvar 		67795299 2942.03 G A PASS 1/1 109 SYNONYMOUS_CODING LOW SILENT 0.24760 0.24760 0.24310 None None None None None None ALDH3B1|0.033093329|68.12%
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs58160034,rs397695802
dbSNP Clinvar 		67789293 3792.06 G GC PASS 1/1 102 FRAME_SHIFT+SPLICE_SITE_REGION HIGH 0.00280 0.99720 0.00024 None None None None None None ALDH3B1|0.033093329|68.12%

ALDH3B2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs2447571
dbSNP Clinvar 		67432804 3717.03 T C PASS 1/1 119 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99900 0.99900 0.00023 1.00 0.00 None None None None None None ALDH3B2|0.012437844|78.93%
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs1551886
dbSNP Clinvar 		67430762 3168.03 T C PASS 1/1 110 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.86801 0.86800 0.14960 1.00 0.00 None None None None None None ALDH3B2|0.012437844|78.93%
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs6591270
dbSNP Clinvar 		67432854 4153.03 T C PASS 1/1 133 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.93610 0.93610 0.06433 1.00 0.00 None None None None None None ALDH3B2|0.012437844|78.93%
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs1551888
dbSNP Clinvar 		67433869 1879.03 C T PASS 1/1 66 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.86861 0.86860 0.15022 1.00 0.00 None None None None None None ALDH3B2|0.012437844|78.93%

ALG9
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs10502151
dbSNP Clinvar 		111724133 926.6 C T PASS 0/1 70 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.32648 0.32650 0.26369 0.06 0.79 None None None None None None ALG9|0.352156163|23.94%
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs10708475
dbSNP Clinvar 		111742145 1726.03 CG C PASS 1/1 43 FRAME_SHIFT HIGH 1.00000 1.00000 0.00040 None None None None None None ALG9|0.352156163|23.94%

ALKBH3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs149613620
dbSNP Clinvar 		43940595 1256.6 A G PASS 0/1 85 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00060 0.00060 0.00146 0.14 0.04 None None None None None None ALKBH3|0.085956572|53.95%
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs2434478
dbSNP Clinvar 		43911365 1845.03 T C PASS 1/1 66 SYNONYMOUS_CODING LOW SILENT 0.99760 0.99760 0.00323 None None None None None None ALKBH3|0.085956572|53.95%
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs1048928
dbSNP Clinvar 		43940644 3129.03 G T PASS 1/1 111 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.61621 0.61620 0.46456 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 f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs645056
dbSNP Clinvar 		107420530 1322.03 A G PASS 1/1 44 SYNONYMOUS_CODING LOW SILENT 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 f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs12421995
dbSNP Clinvar 		44331309 1711.03 G A PASS 1/1 53 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.37201 0.37200 0.54 0.00 None None None None None None ALX4|0.690991356|8.75%
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs3824915
dbSNP Clinvar 		44331509 2918.03 C G PASS 1/1 101 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.47264 0.47260 0.42421 0.00 0.12 None None None None None None ALX4|0.690991356|8.75%
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs10769028
dbSNP Clinvar 		44297054 3815.03 T C PASS 1/1 130 SYNONYMOUS_CODING LOW SILENT 0.99161 0.99160 0.00877 None None None None None None ALX4|0.690991356|8.75%
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs3802805
dbSNP Clinvar 		44286566 1169.6 G A PASS 0/1 86 SYNONYMOUS_CODING LOW SILENT 0.35843 0.35840 0.27461 None None None None None None ALX4|0.690991356|8.75%

AMICA1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs17121881
dbSNP Clinvar 		118081345 1197.6 A T PASS 0/1 98 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.46745 0.46750 0.44735 0.00 0.70 None None None None None None AMICA1|0.006975482|83.52%
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs2298831
dbSNP Clinvar 		118068752 544.6 T C PASS 0/1 70 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.20387 0.20390 0.22202 0.12 0.00 None None None None None None AMICA1|0.006975482|83.52%
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs1793174
dbSNP Clinvar 		118074337 3169.03 A G PASS 1/1 105 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.80252 0.80250 0.19266 0.54 0.02 None None None None None None AMICA1|0.006975482|83.52%

AMOTL1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs2303960
dbSNP Clinvar 		94533373 1584.6 C T PASS 0/1 133 SYNONYMOUS_CODING LOW SILENT 0.26138 0.26140 0.17010 None None None None None None AMOTL1|0.091559982|52.93%

AMPD3
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs3741041
dbSNP Clinvar 		10521764 1210.6 T C PASS 0/1 107 SYNONYMOUS_CODING LOW SILENT 0.36741 0.36740 0.31447 None None None None None None AMPD3|0.504907229|15.58%

ANGPTL5
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs3858418
dbSNP Clinvar 		101771248 1803.03 G A PASS 1/1 62 NON_SYNONYMOUS_CODING MODERATE MISSENSE 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 f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs4938013
dbSNP Clinvar 		113264470 1781.6 A C PASS 0/1 103 SYNONYMOUS_CODING LOW SILENT 0.66054 0.66050 0.28420 None None None None None None ANKK1|0.031328783|68.87%
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs17115439
dbSNP Clinvar 		113264272 1286.6 T C PASS 0/1 124 SYNONYMOUS_CODING LOW SILENT 0.52596 0.52600 0.39937 None None None None None None ANKK1|0.031328783|68.87%
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs11604671
dbSNP Clinvar 		113268059 1530.6 G A PASS 0/1 130 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.22624 0.22620 0.37467 0.61 0.00 None None None None None None ANKK1|0.031328783|68.87%
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs4938016
dbSNP Clinvar 		113270015 1353.6 G C PASS 0/1 129 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00539 0.54930 0.37520 1.00 0.00 None None None None None None ANKK1|0.031328783|68.87%
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs2734849
dbSNP Clinvar 		113270160 1634.6 A G PASS 0/1 169 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.24501 0.24500 0.39192 0.85 0.00 None None None None None None ANKK1|0.031328783|68.87%
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs2734848
dbSNP Clinvar 		113270374 1266.6 C T PASS 0/1 126 SYNONYMOUS_CODING LOW SILENT 0.00060 0.00060 0.24391 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 f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs2298815
dbSNP Clinvar 		67068859 2797.03 T C PASS 1/1 90 SYNONYMOUS_CODING LOW SILENT 0.89477 0.89480 0.09199 None None None None None None ANKRD13D|0.070594446|57.34%

ANKRD49
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs2509943
dbSNP Clinvar 		94231257 897.6 C G PASS 0/1 90 SYNONYMOUS_CODING LOW SILENT 0.54752 0.54750 0.41022 None None None None None None ANKRD49|0.0717867|57.04%

ANO1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs2276066
dbSNP Clinvar 		70007311 1290.6 A G PASS 0/1 106 SYNONYMOUS_CODING LOW SILENT 0.60324 0.60320 0.41343 None None None None None None ANO1|0.129436977|45.95%
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs3740722
dbSNP Clinvar 		70034096 706.6 G A PASS 0/1 65 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.08546 0.08546 0.09158 0.15 0.22 None None None None None None ANO1|0.129436977|45.95%
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs2276067
dbSNP Clinvar 		70007392 1447.6 A G PASS 0/1 129 SYNONYMOUS_CODING LOW SILENT 0.65815 0.65810 0.36090 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 f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs7946841
dbSNP Clinvar 		26656563 1816.03 C T PASS 1/1 63 SYNONYMOUS_CODING LOW SILENT 0.34125 0.34130 0.35535 None None None None None None ANO3|0.315688772|26.37%
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs10835051
dbSNP Clinvar 		26677947 2281.03 C T PASS 1/1 77 SYNONYMOUS_CODING LOW SILENT 0.55851 0.55850 0.43894 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 f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs4312063
dbSNP Clinvar 		22242729 368.6 T C PASS 0/1 49 SYNONYMOUS_CODING LOW SILENT 0.78994 0.78990 0.15557 None None None None None None ANO5|0.057436384|60.57%

ANO9
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs10794323
dbSNP Clinvar 		428385 3040.03 A G PASS 1/1 101 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.92173 0.92170 0.15092 0.40 0.00 None None None None None None ANO9|0.005315208|85.4%
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs7395065
dbSNP Clinvar 		433387 4942.03 A G PASS 1/1 169 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00000 1.00000 1.00 0.00 None None None None None None ANO9|0.005315208|85.4%
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs10794324
dbSNP Clinvar 		428489 1986.03 T C PASS 1/1 67 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.91893 0.91890 0.16818 1.00 0.00 None None None None None None ANO9|0.005315208|85.4%

AP2A2
Omim - GeneCards - NCBI
Options Individual Chr
 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 f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs10794358
dbSNP Clinvar 		985547 4267.03 C T PASS 1/1 146 SYNONYMOUS_CODING LOW SILENT 0.46106 0.46110 0.44776 None None None None None None AP2A2|0.023484891|72.44%
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs375080990
dbSNP Clinvar 		993298 1082.6 C T PASS 0/1 95 SYNONYMOUS_CODING LOW SILENT 0.00016 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 f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs610037
dbSNP Clinvar 		65546857 3247.03 A C PASS 1/1 104 SYNONYMOUS_CODING LOW SILENT 0.45387 0.45390 0.43501 None None None None None None AP5B1|0.021769875|73.29%

APIP
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs2956114
dbSNP Clinvar 		34937813 2859.03 G A PASS 1/1 100 START_GAINED LOW 0.43470 0.43470 0.31670 0.02 0.08 None None None None None None APIP|0.209674362|35.61%,PDHX|0.779810523|6.33%
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs1571133
dbSNP Clinvar 		34909926 2496.03 T G PASS 1/1 84 SYNONYMOUS_CODING LOW SILENT 0.57947 0.57950 0.40185 None None None None None None APIP|0.209674362|35.61%
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs1977420
dbSNP Clinvar 		34910397 1008.03 C T PASS 1/1 35 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.45747 0.45750 0.34098 0.12 0.02 None None None None None None APIP|0.209674362|35.61%

APLNR
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs948847
dbSNP Clinvar 		57004344 3293.03 G T PASS 1/1 111 SYNONYMOUS_CODING LOW SILENT 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 f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs5092
dbSNP Clinvar 		116693464 3391.03 C T PASS 1/1 125 SYNONYMOUS_CODING LOW SILENT 0.71985 0.71980 0.16146 None None None None None None APOA4|0.026315681|71.18%
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs5104
dbSNP Clinvar 		116692334 3788.03 C T PASS 1/1 124 NON_SYNONYMOUS_CODING MODERATE MISSENSE 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 f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs748592317
dbSNP Clinvar 		116661525 1369.6 C T PASS 0/1 140 SYNONYMOUS_CODING LOW SILENT 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 f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs4520
dbSNP Clinvar 		116701535 2958.03 T C PASS 1/1 104 SYNONYMOUS_CODING LOW SILENT 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 f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs2306615
dbSNP Clinvar 		72415329 666.6 G A PASS 0/1 61 SYNONYMOUS_CODING LOW SILENT 0.10623 0.10620 0.07015 None None None None None None ARAP1|0.193135923|37.51%
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs2291289
dbSNP Clinvar 		72408657 831.6 C T PASS 0/1 116 SYNONYMOUS_CODING LOW SILENT 0.25899 0.25900 0.34129 None None None None None None ARAP1|0.193135923|37.51%

ARCN1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs11216925
dbSNP Clinvar 		118471423 348.6 T C PASS 0/1 42 SYNONYMOUS_CODING LOW SILENT 0.28035 0.28040 0.14865 None None None None None None ARCN1|0.675421925|9.21%

ARFGAP2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs4752820
dbSNP Clinvar 		47188314 3339.03 T C PASS 1/1 113 SYNONYMOUS_CODING LOW SILENT 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 f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs4268467
dbSNP Clinvar 		46702920 1775.03 T C PASS 1/1 59 SYNONYMOUS_CODING LOW SILENT 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 f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs670440
dbSNP Clinvar 		128868239 858.6 T C PASS 0/1 86 SYNONYMOUS_CODING LOW SILENT 0.57109 0.57110 0.33926 None None None None None None ARHGAP32|0.193856794|37.43%
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs581258
dbSNP Clinvar 		128842873 1619.6 T C PASS 0/1 155 SYNONYMOUS_CODING LOW SILENT 0.19948 0.19950 0.18706 None None None None None None ARHGAP32|0.193856794|37.43%

ARHGEF12
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs2305013
dbSNP Clinvar 		120340060 721.6 A T PASS 0/1 73 NON_SYNONYMOUS_CODING MODERATE MISSENSE 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 f06400088-ib-ex-60-1639-mahdi-papolzaee-x_s46 soft_filtered 11 rs664226
dbSNP Clinvar 		64789194 2630.03 T C PASS 1/1 90 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.45767 0.45770 0.34562 1.00 0.00 None None None None None None ARL2|0.107780954|49.62%