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+ Genes 463

Genes:
ABCA13, ABCB1, ABCB4, ABCB5, ABCB8, ABCF2, AC006372.1, AC011294.3, AC021218.2, AC073343.1, AC074389.6, AC091801.1, AC110781.3, ACHE, ACTR3C, ADAP1, ADCK2, ADCY1, AEBP1, AGAP3, AGBL3, AGR2, AHR, AIMP2, AKAP9, ALKBH4, AMPH, AMZ1, ANKIB1, ANKMY2, ANKRD61, ANLN, AOAH, AOC1, ARHGEF35, ASB15, ASIC3, ATG9B, ATP6V0A4, ATP6V1F, BAIAP2L1, BAZ1B, BBS9, BLACE, BLVRA, BMPER, BRAT1, C7orf13, C7orf25, C7orf26, C7orf31, C7orf50, C7orf57, C7orf61, C7orf62, C7orf63, C7orf65, C7orf71, C7orf72, CACNA2D1, CADPS2, CALCR, CALD1, CAMK2B, CAPZA2, CARD11, CASD1, CAV1, CCDC129, CCDC132, CCDC136, CCDC146, CCL24, CCT6A, CCZ1B, CDCA7L, CDHR3, CDK13, CFTR, CHN2, CHPF2, CHST12, CLCN1, CLDN15, CLIP2, CNOT4, CNTNAP2, COBL, COG5, COL1A2, COL26A1, COL28A1, CPA2, CPA4, CPA5, CPED1, CPVL, CREB3L2, CUX1, CYP2W1, CYP3A7, CYTH3, DDC, DDX56, DENND2A, DFNA5, DGKB, DGKI, DNAH11, DNAJB6, DNAJB9, DNAJC30, DOCK4, DPP6, DTX2, EEPD1, EGFR, EIF2AK1, EIF3B, EN2, EPDR1, EPHA1, EPHB4, EPHB6, ERV3-1, ESYT2, ETV1, EXOC4, FAM115A, FAM115C, FAM131B, FAM185A, FAM220A, FAM221A, FAM71F1, FAM71F2, FASTK, FBXL13, FBXL18, FLNC, FOXK1, FOXP2, FSCN3, FZD9, GAL3ST4, GALNTL5, GARS, GBAS, GBX1, GET4, GIGYF1, GIMAP2, GIMAP4, GIMAP5, GIMAP7, GIMAP8, GLCCI1, GLI3, GNA12, GNAI1, GNAT3, GNB2, GPER1, GPNMB, GPR85, GRB10, GRID2IP, GRM3, GSAP, GTF2IRD2, GTPBP10, GUSB, HBP1, HDAC9, HEATR2, HIPK2, HOXA1, HOXA4, HOXA5, HOXA7, HUS1, ICA1, IFRD1, IGFBP1, IGFBP3, IKZF1, IMPDH1, INMT, INTS1, IQCE, IQUB, ISPD, KBTBD2, KCNH2, KDELR2, KDM7A, KIAA1147, KIAA1549, KLF14, KLRG2, KMT2C, KMT2E, KPNA7, KRBA1, KRIT1, LAMB1, LAMB4, LAMTOR4, LFNG, LHFPL3, LMOD2, LMTK2, LRGUK, LRRC17, LRRC4, LRRC61, LRRN3, LRWD1, LSM5, MACC1, MAGI2, MCM7, MDFIC, MDH2, MEOX2, MET, METTL2B, MGAM, MICALL2, MIOS, MLXIPL, MPP6, MTERF, MTURN, MUC12, MUC17, MUC3A, MYL7, MYO1G, NACAD, NAMPT, NAT16, NCF1, NFE2L3, NME8, NOBOX, NOD1, NOM1, NOS3, NPC1L1, NPSR1, NPVF, NPY, NRCAM, NRF1, NT5C3A, NUB1, NUP205, OGDH, OR2A1, OR2A14, OR2A25, OR2A42, OR2A5, OR2A7, OR2F1, OR6B1, ORAI2, ORC5, OSBPL3, PAPOLB, PARP12, PAX4, PCLO, PDE1C, PDGFA, PDK4, PEX1, PHF14, PHKG1, PIK3CG, PKD1L1, PLEKHA8, PLOD3, PLXNA4, PMS2, PODXL, POLR2J3, POM121, POM121C, POM121L12, PON1, PON3, POR, POT1, POU6F2, PP13004, PPP1R3A, PPP1R9A, PRKAR2B, PRR15, PRRT4, PRSS1, PRSS37, PRSS58, PSPH, PTPN12, PTPRN2, PTPRZ1, PURB, RADIL, RAPGEF5, RARRES2, RASA4, RASA4B, RBAK, RBM33, RELN, REPIN1, RHBDD2, RINT1, RNF32, RP11-1220K2.2, RP9, RSBN1L, RSPH10B, SAMD9, SAMD9L, SCIN, SDK1, SEMA3A, SEMA3C, SEMA3E, SFRP4, SLC13A4, SLC25A13, SLC26A3, SLC35B4, SLC37A3, SLC4A2, SMKR1, SMO, SNX13, SNX8, SP8, SPAM1, ST7-OT4, STAG3, STEAP1B, STEAP2, STEAP4, STK17A, SUGCT, SUMF2, SUN1, SVOPL, TAS2R16, TAS2R3, TAS2R38, TAS2R4, TAS2R41, TAS2R5, TAX1BP1, TBRG4, TBX20, TBXAS1, TECPR1, TES, THSD7A, TMEM106B, TMEM120A, TMEM130, TMEM140, TMEM168, TMEM176A, TMEM176B, TMEM178B, TMEM184A, TMEM209, TMEM213, TMEM60, TNPO3, TNRC18, TNS3, TRBC2, TRBV10-1, TRBV10-2, TRBV19, TRBV2, TRBV25-1, TRBV27, TRBV3-1, TRBV4-1, TRBV4-2, TRBV5-4, TRBV5-6, TRBV6-4, TRBV6-6, TRBV6-7, TRBV6-8, TRBV7-1, TRBV7-3, TRBV7-4, TRBV7-6, TRBV7-7, TRGC1, TRGC2, TRGJ1, TRGV11, TRGV2, TRGV4, TRGV9, TRIM56, TRIM74, TRIP6, TSGA13, TSPAN12, TSPAN13, TTYH3, TYW1, TYW1B, UBE3C, UPK3B, URGCP, USP42, VIPR2, VOPP1, VPS41, VWC2, VWDE, WASL, WBSCR16, WBSCR27, WBSCR28, WDR60, WDR86, WDR91, WIPF3, YAE1D1, YWHAG, ZAN, ZBED6CL, ZC3HAV1, ZC3HC1, ZMIZ2, ZNF107, ZNF117, ZNF138, ZNF3, ZNF398, ZNF425, ZNF479, ZNF680, ZNF716, ZNF727, ZNF736, ZNF746, ZNF775, ZNF777, ZNF804B, ZNF862, ZSCAN21, ZYX,

+ Genes associated with diseases 92

Genes at Omim

ABCB1, ABCB4, ACHE, ADCY1, AEBP1, AHR, AIMP2, AKAP9, ANLN, ATP6V0A4, BLVRA, BMPER, BRAT1, CALCR, CAMK2B, CARD11, CAV1, CDK13, CFTR, CLCN1, CNTNAP2, COG5, COL1A2, CUX1, DDC, DNAH11, DNAJB6, DPP6, EGFR, EPHB4, FLNC, FOXP2, GARS, GLCCI1, GLI3, GPNMB, GUSB, HOXA1, IKZF1, IMPDH1, IQCE, ISPD, KCNH2, KMT2C, LAMB1, LFNG, MAGI2, MDH2, MET, NCF1, NME8, NOBOX, NOS3, NPC1L1, NPSR1, NT5C3A, NUP205, OGDH, PAX4, PCLO, PDE1C, PEX1, PKD1L1, PLOD3, PMS2, PON1, POR, POT1, POU6F2, PPP1R3A, PRSS1, PSPH, PTPN12, RELN, RP9, SAMD9, SAMD9L, SEMA3A, SEMA3E, SFRP4, SLC25A13, SLC26A3, STAG3, TAS2R16, TAS2R38, TBX20, TBXAS1, TMEM106B, TNPO3, TSPAN12, WDR60, YWHAG,
ABCB1 {Inflammatory bowel disease 13}, 612244 (3)
{Colchicine resistance}, 120080 (3)
ABCB4 Gallbladder disease 1, 600803 (3)
Cholestasis, intrahepatic, of pregnancy, 3, 614972 (3)
Cholestasis, progressive familial intrahepatic 3, 602347 (3)
ACHE [Blood group, Yt system], 112100 (3)
ADCY1 ?Deafness, autosomal recessive 44, 610154 (3)
AEBP1 Ehlers-Danlos syndrome, classic-like, 2, 618000 (3)
AHR ?Retinitis pigmentosa 85, 618345 (3)
AIMP2 Leukodystrophy, hypomyelinating, 17, 618006 (3)
AKAP9 ?Long QT syndrome-11, 611820 (3)
ANLN Focal segmental glomerulosclerosis 8, 616032 (3)
ATP6V0A4 Renal tubular acidosis, distal, autosomal recessive, 602722 (3)
BLVRA Hyperbiliverdinemia, 614156 (3)
BMPER Diaphanospondylodysostosis, 608022 (3)
BRAT1 Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, 618056 (3)
Rigidity and multifocal seizure syndrome, lethal neonatal, 614498 (3)
CALCR {Osteoporosis, postmenopausal, susceptibility}, 166710 (3)
CAMK2B Mental retardation, autosomal dominant 54, 617799 (3)
CARD11 B-cell expansion with NFKB and T-cell anergy, 616452 (3)
Immunodeficiency 11A, 615206 (3)
Immunodeficiency 11B with atopic dermatitis, 617638 (3)
CAV1 Lipodystrophy, familial partial, type 7, 606721 (3)
?Lipodystrophy, congenital generalized, type 3, 612526 (3)
Pulmonary hypertension, primary, 3, 615343 (3)
CDK13 Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360 (3)
CFTR {Hypertrypsinemia, neonatal} (3)
Congenital bilateral absence of vas deferens, 277180 (3)
Cystic fibrosis, 219700 (3)
{Pancreatitis, hereditary}, 167800 (3)
Sweat chloride elevation without CF (3)
{Bronchiectasis with or without elevated sweat chloride 1, modifier of}, 211400 (3)
CLCN1 Myotonia congenita, dominant, 160800 (3)
Myotonia congenita, recessive, 255700 (3)
Myotonia levior, recessive (3)
CNTNAP2 Cortical dysplasia-focal epilepsy syndrome, 610042 (3)
Pitt-Hopkins like syndrome 1, 610042 (3)
{Autism susceptibility 15}, 612100 (3)
COG5 Congenital disorder of glycosylation, type IIi, 613612 (3)
COL1A2 {Osteoporosis, postmenopausal}, 166710 (3)
Ehlers-Danlos syndrome, arthrochalasia type, 2, 617821 (3)
Ehlers-Danlos syndrome, cardiac valvular type, 225320 (3)
Osteogenesis imperfecta, type II, 166210 (3)
Osteogenesis imperfecta, type III, 259420 (3)
Osteogenesis imperfecta, type IV, 166220 (3)
CUX1 Global developmental delay with or without impaired intellectual development, 618330 (3)
DDC Aromatic L-amino acid decarboxylase deficiency, 608643 (3)
DNAH11 Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)
DNAJB6 Muscular dystrophy, limb-girdle, autosomal dominant 1, 603511 (3)
DPP6 {Ventricular fibrillation, paroxysmal familial, 2}, 612956 (3)
Mental retardation, autosomal dominant 33, 616311 (3)
EGFR Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, 211980 (3)
{Nonsmall cell lung cancer, susceptibility to}, 211980 (3)
?Inflammatory skin and bowel disease, neonatal, 2, 616069 (3)
Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, 211980 (3)
EPHB4 Capillary malformation-arteriovenous malformation 2, 618196 (3)
Lymphatic malformation 7, 617300 (3)
FLNC Cardiomyopathy, familial hypertrophic, 26 (3)
Cardiomyopathy, familial restrictive 5, 617047 (3)
Myopathy, distal, 4, 614065 (3)
Myopathy, myofibrillar, 5, 609524 (3)
FOXP2 Speech-language disorder-1, 602081 (3)
GARS Charcot-Marie-Tooth disease, type 2D, 601472 (3)
Neuropathy, distal hereditary motor, type VA, 600794 (3)
GLCCI1 {Glucocorticoid therapy, response to}, 614400 (3)
GLI3 {Hypothalamic hamartomas, somatic}, 241800 (3)
Greig cephalopolysyndactyly syndrome, 175700 (3)
Pallister-Hall syndrome, 146510 (3)
Polydactyly, postaxial, types A1 and B, 174200 (3)
Polydactyly, preaxial, type IV, 174700 (3)
GPNMB Amyloidosis, primary localized cutaneous, 3, 617920 (3)
GUSB Mucopolysaccharidosis VII, 253220 (3)
HOXA1 Athabaskan brainstem dysgenesis syndrome, 601536 (3)
Bosley-Salih-Alorainy syndrome, 601536 (3)
IKZF1 Immunodeficiency, common variable, 13, 616873 (3)
IMPDH1 Leber congenital amaurosis 11, 613837 (3)
Retinitis pigmentosa 10, 180105 (3)
IQCE ?Polydactyly, postaxial, type A7, 617642 (3)
ISPD Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643 (3)
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052 (3)
KCNH2 {Long QT syndrome 2, acquired, susceptibility to}, 613688 (3)
Long QT syndrome 2, 613688 (3)
Short QT syndrome 1, 609620 (3)
KMT2C Kleefstra syndrome 2, 617768 (3)
LAMB1 Lissencephaly 5, 615191 (3)
LFNG Spondylocostal dysostosis 3, autosomal recessive, 609813 (3)
MAGI2 Nephrotic syndrome, type 15, 617609 (3)
MDH2 Epileptic encephalopathy, early infantile, 51, 617339 (3)
MET Hepatocellular carcinoma, childhood type, somatic, 114550 (3)
{Osteofibrous dysplasia, susceptibility to}, 607278 (3)
?Deafness, autosomal recessive 97, 616705 (3)
Renal cell carcinoma, papillary, 1, familial and somatic, 605074 (3)
NCF1 Chronic granulomatous disease due to deficiency of NCF-1, 233700 (3)
NME8 Ciliary dyskinesia, primary, 6, 610852 (3)
NOBOX Premature ovarian failure 5, 611548 (3)
NOS3 {Hypertension, pregnancy-induced}, 189800 (3)
{Hypertension, susceptibility to}, 145500 (3)
{Ischemic stroke, susceptibility to}, 601367 (3)
{Placental abruption} (3)
{Alzheimer disease, late-onset, susceptibility to}, 104300 (3)
{Coronary artery spasm 1, susceptibility to} (3)
NPC1L1 [Ezetimibe, nonresponse to], 617966 (3)
[Low density lipoprotein cholesterol level QTL 7], 617966 (3)
NPSR1 {Asthma, susceptibility to, 2}, 608584 (3)
NT5C3A Anemia, hemolytic, due to UMPH1 deficiency, 266120 (3)
NUP205 ?Nephrotic syndrome, type 13, 616893 (3)
OGDH Alpha-ketoglutarate dehydrogenase deficiency, 203740 (1)
PAX4 Diabetes mellitus, type 2, 125853 (3)
Maturity-onset diabetes of the young, type IX, 612225 (3)
{Diabetes mellitus, ketosis-prone, susceptibility to}, 612227 (3)
PCLO ?Pontocerebellar hypoplasia, type 3, 608027 (3)
PDE1C ?Deafness, autosomal dominant 74, 618140 (3)
PEX1 Heimler syndrome 1, 234580 (3)
Peroxisome biogenesis disorder 1A (Zellweger), 214100 (3)
Peroxisome biogenesis disorder 1B (NALD/IRD), 601539 (3)
PKD1L1 Heterotaxy, visceral, 8, autosomal, 617205 (3)
PLOD3 Lysyl hydroxylase 3 deficiency, 612394 (3)
PMS2 Colorectal cancer, hereditary nonpolyposis, type 4, 614337 (3)
Mismatch repair cancer syndrome, 276300 (3)
PON1 {Microvascular complications of diabetes 5}, 612633 (3)
{Organophosphate poisoning, sensitivity to} (3)
{Coronary artery disease, susceptibility to} (3)
{Coronary artery spasm 2, susceptibility to (3)
POR Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 (3)
Disordered steroidogenesis due to cytochrome P450 oxidoreductase, 613571 (3)
POT1 {Glioma susceptibility 9}, 616568 (3)
{Melanoma, cutaneous malignant, susceptibility to, 10}, 615848 (3)
POU6F2 {Wilms tumor susceptibility-5}, 601583 (3)
PPP1R3A Insulin resistance, severe, digenic, 125853 (3)
PRSS1 Pancreatitis, hereditary, 167800 (3)
Trypsinogen deficiency, 614044 (1)
PSPH Phosphoserine phosphatase deficiency, 614023 (3)
PTPN12 Colon cancer, somatic, 114500 (3)
RELN Lissencephaly 2 (Norman-Roberts type), 257320 (3)
{Epilepsy, familial temporal lobe, 7}, 616436 (3)
RP9 ?Retinitis pigmentosa 9, 180104 (3)
SAMD9 MIRAGE syndrome, 617053 (3)
Tumoral calcinosis, familial, normophosphatemic, 610455 (3)
SAMD9L Ataxia-pancytopenia syndrome, 159550 (3)
SEMA3A {Hypogonadotropic hypogonadism 16 with or without anosmia}, 614897 (3)
SEMA3E ?CHARGE syndrome, 214800 (3)
SFRP4 Pyle disease, 265900 (3)
SLC25A13 Citrullinemia, adult-onset type II, 603471 (3)
Citrullinemia, type II, neonatal-onset, 605814 (3)
SLC26A3 Diarrhea 1, secretory chloride, congenital, 214700 (3)
STAG3 Premature ovarian failure 8, 615723 (3)
TAS2R16 [Beta-glycopyranoside tasting], 617956 (3) {Alcohol dependence, susceptibility to}, 103780 (3)
TAS2R38 [Phenylthiocarbamide tasting], 171200 (3)
TBX20 Atrial septal defect 4, 611363 (3)
TBXAS1 Ghosal hematodiaphyseal syndrome, 231095 (3)
?Thromboxane synthase deficiency, 614158 (1)
TMEM106B Leukodystrophy, hypomyelinating, 16, 617964 (3)
TNPO3 Muscular dystrophy, limb-girdle, autosomal dominant 2, 608423 (3)
TSPAN12 Exudative vitreoretinopathy 5, 613310 (3)
WDR60 Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 (3)
YWHAG Epileptic encephalopathy, early infantile, 56, 617665 (3)

Genes at Clinical Genomics Database

ABCB1, ABCB4, ACHE, ADCY1, AKAP9, ANLN, ATP6V0A4, BBS9, BLVRA, BMPER, BRAT1, CARD11, CAV1, CFTR, CLCN1, CNTNAP2, COG5, COL1A2, DDC, DFNA5, DNAH11, DNAJB6, DPP6, EGFR, FLNC, FOXP2, GARS, GLI3, GUSB, HOXA1, IKZF1, IMPDH1, ISPD, KCNH2, KRIT1, LAMB1, LFNG, MET, NCF1, NME8, NOBOX, NPC1L1, NT5C3A, NUP205, PAX4, PEX1, PLOD3, PMS2, PON1, POR, POT1, POU6F2, PPP1R3A, PRSS1, PSPH, RELN, RP9, SAMD9, SEMA3A, SEMA3E, SLC25A13, SLC26A3, STAG3, SUGCT, TAS2R38, TBX20, TBXAS1, TNPO3, TSPAN12, WDR60,
ABCB1 Colchicine metabolism, association with
ABCB4 Cholestasis, progressive familial intrahepatic 3
Low phospholipid-associated cholelithiasis 1
Cholestasis, oral contraceptives induced
Cholestasis, familial intrahepatic, of pregnancy
Gallbladder disease 1
ACHE Blood group, Yt system
ADCY1 Deafness, autosomal dominant 44
AKAP9 Long QT syndrome 11
ANLN Focal segmental glomerulosclerosis 8
ATP6V0A4 Renal tubular acidosis, distal, autosomal recessive
BBS9 Bardet-Biedl syndrome 9
BLVRA Hyperbiliverdinemia
BMPER Diaphanospondylodysostosis
BRAT1 Rigidity and multifocal seizure syndrome, lethal neonatal
CARD11 B-cell expansion with NFKB and T-cell anergy
Immunodeficiency 11
CAV1 Lipodystrophy, congenital generalized, type 3
Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
CFTR Cystic fibrosis
CLCN1 Myotonia congenita, autosomal dominant
Myotonia congenita, autosomal recessive, Myotonia levior
CNTNAP2 Cortical dysplasia-focal epilepsy syndrome
Pitt-Hopkins like syndrome 1
COG5 Congenital disorder of glycosylation, type IIi
COL1A2 Ehlers-Danlos syndrome, cardiac valvular form
DDC Aromatic l-amino acid decarboxylase deficiency
DFNA5 Deafness, autosomal dominant 5
DNAH11 Ciliary dyskinesia, primary, 7
DNAJB6 Muscular dystrophy, limb-girdle, type 1E
DPP6 Ventricular fibrillation, paroxysmal familial, 2
EGFR Acute myeloid leukemia, familial
Lung cancer, familial, susceptibilty to
Inflammatory skin and bowel disease, neonatal, 2
FLNC Myopathy, distal, 4
Myopathy, myofibrillar, 5
FOXP2 Speech-language disorder 1
GARS Charcot-Marie-Tooth disease, type 2D
Neuropathy, distal hereditary motor, type V
GLI3 Acrocallosal syndrome
Pallister-Hall syndrome
Grieg cephalopolysndactyly syndrome
Postaxial polydactyly type A1
Polydactyly, preaxial, type IV
Polydactyly, postaxial, types A1 and B
GUSB Mucopolysaccharidosis type VII
HOXA1 Athabaskan brainstem dysgenesis syndrome
Bosley-Salih-Alorainy syndrome
IKZF1 Immunodeficiency, common variable, 13
IMPDH1 Retinitis pigmentosa 10
Leber congenital amaurosis 11
ISPD Muscular dystrophy-dystroglycanopathy (congenital, with brain and eye anomalies), type A, 7
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7
KCNH2 Long QT syndrome 2
Short QT syndrome 1
KRIT1 Cerebral cavernous malformations 1
LAMB1 Lissencephaly 5
LFNG Spondylocostal dysostosis, autosomal recessive 3
MET Renal cell carcinoma, papillary
Deafness, autosomal recessive 97
NCF1 Chronic granulomatous disease, autosomal recessive, cytochrome b-positive, type I
NME8 Ciliary dyskinesia, primary, 6
NOBOX Premature ovarian failure 5
NPC1L1 Ezetimibe, nonresponse to
NT5C3A Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to
NUP205 Nephrotic syndrome, type 13
PAX4 Diabetes mellitus
PEX1 Heimler syndrome 1
PLOD3 Bone fragility with contractures, arterial rupture, and deafness
PMS2 Colorectal cancer, hereditary nonpolyposis type 4
Mismatch repair cancer syndrome
PON1 Clopidogrel treatment, sensitivity to
POR Antley-Bixler syndrome
Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency
POT1 Glioma susceptibility 9
Melanoma, cutaneous malignant, susceptibility to 10
POU6F2 Wilms tumor 5
PPP1R3A Insulin resistance, severe, digenic
PRSS1 Pancreatitis, hereditary
PSPH Phosphoserine phosphatase deficiency
RELN Epilepsy, familial temporal lobe, 7
Lissencephaly 2
RP9 Retinitis pigmentosa 9
SAMD9 Tumoral calcinosis, normophosphatemic
SEMA3A Hypogonadotropic hypogonadism 16 with or without anosmia
SEMA3E CHARGE syndrome
SLC25A13 Citrin deficiency
SLC26A3 Diarrhea 1, secretory chloride, congenital
STAG3 Premature ovarian failure 8
SUGCT Glutaric aciduria III
TAS2R38 Thiourea tasting
Phenylthiocarbamide tasting
TBX20 Atrial septal defect 4
TBXAS1 Ghosal hematodiaphyseal syndrome
TNPO3 Muscular dystrophy, limb-girdle, type 1F
TSPAN12 Exudative vitreoretinopathy 5
Retinal dysplasia and severe familial exudative vitreoretinopathy
WDR60 Short -rib thoracic dysplasia 8 with or without polydactyly

Genes at HGMD

Summary

Number of Variants: 2457
Number of Genes: 463

Export to: CSV

ABCA13
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 sm007-1 both 7 rs2222648
dbSNP Clinvar 		48318811 2819.77 C T . 1/1 82 NON_SYNONYMOUS_CODING MODERATE None 0.85224 0.85220 0.22580 0.00 None None None None None None ABCA13|0.04721773|63.52%
View sm007-1 both 7 rs6583448
dbSNP Clinvar 		48545976 3152.77 A G . 1/1 96 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.00 None None None None None None ABCA13|0.04721773|63.52%
View sm007-1 both 7 rs78334925
dbSNP Clinvar 		48317708 1221.77 A C . 1/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.09724 0.09724 0.06900 0.09 None None None None None None ABCA13|0.04721773|63.52%
View sm007-1 both 7 rs77190804
dbSNP Clinvar 		48313757 2152.77 G A . 1/1 61 SYNONYMOUS_CODING LOW None 0.09625 0.09625 0.07358 None None None None None None ABCA13|0.04721773|63.52%
View sm007-1 both 7 rs6583546
dbSNP Clinvar 		48336844 3003.77 C T . 1/1 85 SYNONYMOUS_CODING LOW None 0.76897 0.76900 0.35105 None None None None None None ABCA13|0.04721773|63.52%
View sm007-1 both 7 rs17548783
dbSNP Clinvar 		48450157 3589.77 T C . 0/1 236 SYNONYMOUS_CODING LOW None 0.46266 0.46270 0.46629 None None None None None None ABCA13|0.04721773|63.52%
View sm007-1 both 7 rs1880736
dbSNP Clinvar 		48315796 1758.77 C A . 1/1 48 NON_SYNONYMOUS_CODING MODERATE None 0.81290 0.81290 0.30295 0.00 None None None None None None ABCA13|0.04721773|63.52%
View sm007-1 both 7 rs17712299
dbSNP Clinvar 		48313881 1816.77 T C . 1/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.09645 0.09645 0.07398 0.99 None None None None None None ABCA13|0.04721773|63.52%
View sm007-1 both 7 rs1358066
dbSNP Clinvar 		48312674 3494.77 G A . 1/1 107 SYNONYMOUS_CODING LOW None 0.57528 0.57530 0.49452 None None None None None None ABCA13|0.04721773|63.52%
View sm007-1 both 7 rs4917153
dbSNP Clinvar 		48506642 831.77 A G . 0/1 81 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.23063 0.23060 0.17498 0.00 None None None None None None ABCA13|0.04721773|63.52%
View sm007-1 both 7 rs4917152
dbSNP Clinvar 		48506566 582.77 A G . 0/1 56 NON_SYNONYMOUS_CODING MODERATE None 0.23083 0.23080 0.17826 0.00 None None None None None None ABCA13|0.04721773|63.52%

ABCB1
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 sm007-1 both 7 rs1045642
dbSNP Clinvar 		87138645 874.77 A G . 0/1 72 SYNONYMOUS_CODING LOW None 0.60483 0.60480 0.42334 None None None None None None ABCB1|0.831468236|5.08%
View sm007-1 both 7 rs2032582
dbSNP Clinvar 		87160618 905.77 A C . 0/1 51 NON_SYNONYMOUS_CODING MODERATE None 0.04872 0.61700 0.32193 1.00 0.00 None None None None None None ABCB1|0.831468236|5.08%

ABCB4
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 sm007-1 both 7 rs1202283
dbSNP Clinvar 		87082292 1654.77 G A . 0/1 140 SYNONYMOUS_CODING LOW None 0.34784 0.34780 0.40412 None None None None None None ABCB4|0.238504845|32.55%

ABCB5
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 sm007-1 both 7 rs2074000
dbSNP Clinvar 		20685484 1399.77 C A . 0/1 97 NON_SYNONYMOUS_CODING MODERATE None 0.14317 0.14320 0.00641 0.00 0.85 None None None None None None ABCB5|0.12579132|46.5%
View sm007-1 both 7 rs6461515
dbSNP Clinvar 		20778646 2406.77 G A . 1/1 75 NON_SYNONYMOUS_CODING MODERATE None 0.75679 0.75680 0.22620 0.13 0.81 None None None None None None ABCB5|0.12579132|46.5%

ABCB8
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 sm007-1 both 7 rs61741011
dbSNP Clinvar 		150742388 674.77 A C . 0/1 44 SYNONYMOUS_CODING LOW None 0.05931 0.05931 0.05044 None None None None None None ABCB8|0.062047001|59.3%
View sm007-1 both 7 rs35900662
dbSNP Clinvar 		150734380 671.77 T C . 0/1 46 None None None 0.30172 0.30170 0.00 None None None None None None ABCB8|0.062047001|59.3%
View sm007-1 both 7 rs2303926
dbSNP Clinvar 		150733025 2071.77 T A . 0/1 157 SYNONYMOUS_CODING LOW None 0.30052 0.30050 0.31816 None None None None None None ABCB8|0.062047001|59.3%
View sm007-1 both 7 rs4148844
dbSNP Clinvar 		150730999 838.77 G A . 0/1 72 NON_SYNONYMOUS_CODING MODERATE None 0.05970 0.05970 0.05221 0.79 0.01 None None None None None None ABCB8|0.062047001|59.3%

ABCF2
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 sm007-1 both 7 rs6464133
dbSNP Clinvar 		150921950 3918.77 A G . 1/1 115 SYNONYMOUS_CODING LOW None 0.73902 0.73900 0.28925 None None None None None None ABCF2|0.445512851|18.39%
View sm007-1 both 7 rs6949587
dbSNP Clinvar 		150916228 1311.77 G A . 0/1 85 SYNONYMOUS_CODING LOW None 0.41933 0.41930 0.34822 None None None None None None ABCF2|0.445512851|18.39%

AC006372.1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sm007-1 both 7 rs148144246
dbSNP Clinvar 		157318751 1411.77 G T . 0/1 105 STOP_GAINED HIGH None 0.00100 0.00100 None None None None None None None

AC011294.3
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 sm007-1 both 7 rs700747
dbSNP Clinvar 		46732428 4235.77 A G . 1/1 115 NON_SYNONYMOUS_CODING MODERATE None 0.99022 0.99020 0.00 None None None None None None None

AC021218.2
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sm007-1 both 7 rs1551630
dbSNP Clinvar 		155757502 1523.77 T C . 1/1 41 NON_SYNONYMOUS_CODING MODERATE None 0.96965 0.96960 0.00 None None None None None None None
View sm007-1 both 7 rs2007015
dbSNP Clinvar 		155755826 2177.77 A G . 1/1 64 SYNONYMOUS_CODING LOW None 0.70647 0.70650 None None None None None None None

AC073343.1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sm007-1 both 7 rs2243620
dbSNP Clinvar 		6713985 2513.77 A G . 0/1 169 NON_SYNONYMOUS_CODING MODERATE None 0.83486 0.83490 0.55 0.00 None None None None None None None

AC074389.6
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 sm007-1 both 7 rs79496824
dbSNP Clinvar 		1733182 1338.77 C T . 0/1 104 NON_SYNONYMOUS_CODING MODERATE None 0.12121 0.12120 0.00 0.00 None None None None None None ELFN1|0.050148349|62.62%
View sm007-1 both 7 rs56130225
dbSNP Clinvar 		1733192 1255.77 C T . 0/1 101 NON_SYNONYMOUS_CODING MODERATE None 0.08027 0.08027 0.00 0.00 None None None None None None ELFN1|0.050148349|62.62%

AC091801.1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View sm007-1 both 7 rs4634530
dbSNP Clinvar 		3197867 393.77 T C . 0/1 34 None None None 0.44828 0.44830 None None None None None None None

AC110781.3
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 sm007-1 both 7 rs3889573
dbSNP Clinvar 		1878377 1236.77 A G . 1/1 45 START_LOST HIGH None 0.83646 0.83650 0.00 None None None None None None MAD1L1|0.134111219|45.25%

ACHE
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 sm007-1 both 7 rs1799806
dbSNP Clinvar 		100488658 736.77 G C . 1/1 22 NON_SYNONYMOUS_CODING MODERATE None 0.26937 0.26940 0.34119 0.38 0.00 None None None None None None ACHE|0.455026425|17.93%

ACTR3C
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 sm007-1 both 7 rs28634863
dbSNP Clinvar 		149983565 902.77 T C . 0/1 134 NON_SYNONYMOUS_CODING MODERATE None 0.28854 0.28850 0.46 0.00 None None None None None None ACTR3C|0.005900668|84.7%

ADAP1
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 sm007-1 both 7 rs10256887
dbSNP Clinvar 		940181 1178.77 C T . 1/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.86701 0.86700 0.12406 1.00 0.00 None None None None None None ADAP1|0.029140217|69.81%,COX19|0.030938283|68.99%
View sm007-1 both 7 rs3808343
dbSNP Clinvar 		960450 1521.77 C T . 0/1 119 None None None 0.03634 0.03634 None None None None None None ADAP1|0.029140217|69.81%,COX19|0.030938283|68.99%

ADCK2
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 sm007-1 both 7 rs2968558
dbSNP Clinvar 		140373326 1141.77 A G . 0/1 94 NON_SYNONYMOUS_CODING MODERATE None 0.31669 0.31670 0.26958 0.73 0.00 None None None None None None DENND2A|0.040367086|65.64%,ADCK2|0.011976482|79.27%
View sm007-1 both 7 rs1140034
dbSNP Clinvar 		140374049 1396.77 T C . 0/1 105 NON_SYNONYMOUS_CODING MODERATE None 0.31550 0.31550 0.28010 1.00 0.00 None None None None None None ADCK2|0.011976482|79.27%

ADCY1
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 sm007-1 both 7 rs1042009
dbSNP Clinvar 		45703971 427.77 G A . 0/1 32 None None None 0.47264 0.47260 None None None None None None ADCY1|0.149696441|43.08%

AEBP1
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 sm007-1 both 7 rs2595701
dbSNP Clinvar 		44148553 2694.77 A G . 1/1 83 SYNONYMOUS_CODING LOW None 0.78874 0.78870 0.25836 None None None None None None AEBP1|0.046717327|63.68%
View sm007-1 both 7 rs13928
dbSNP Clinvar 		44153780 4151.77 A G . 1/1 121 NON_SYNONYMOUS_CODING MODERATE None 0.36861 0.36860 0.45610 1.00 0.00 None None None None None None AEBP1|0.046717327|63.68%

AGAP3
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 sm007-1 both 7 rs6971966
dbSNP Clinvar 		150812493 27.77 G C LowQual 0/1 9 None None None 0.82288 0.82290 None None None None None None AGAP3|0.094196358|52.32%

AGBL3
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 sm007-1 both 7 rs4236655
dbSNP Clinvar 		134701856 7700.77 G C . 1/1 228 NON_SYNONYMOUS_CODING MODERATE None 0.91054 0.91050 0.06833 0.13 0.11 None None None None None None AGBL3|0.045265094|64.12%
View sm007-1 both 7 rs9656447
dbSNP Clinvar 		134719551 3841.77 C G . 1/1 111 SYNONYMOUS_CODING LOW None 0.90974 0.90970 0.06855 None None None None None None AGBL3|0.045265094|64.12%

AGR2
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 sm007-1 both 7 rs6842
dbSNP Clinvar 		16834597 7617.77 A G . 1/1 224 SYNONYMOUS_CODING LOW None 0.33546 0.33550 0.38490 None None None None None None AGR2|0.129707594|45.92%
View sm007-1 both 7 rs4719480
dbSNP Clinvar 		16834551 6803.77 C A . 1/1 197 None None None 0.91633 0.91630 0.13063 0.00 0.00 None None None None None None AGR2|0.129707594|45.92%

AHR
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 sm007-1 both 7 rs2066853
dbSNP Clinvar 		17379110 5701.77 G A . 1/1 157 NON_SYNONYMOUS_CODING MODERATE None 0.27077 0.27080 0.21736 1.00 0.00 None None None None None None AHR|0.22557491|33.82%

AIMP2
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 sm007-1 both 7 rs4560
dbSNP Clinvar 		6063283 1061.77 C T . 0/1 81 SYNONYMOUS_CODING LOW None 0.32788 0.32790 0.34930 None None None None None None AIMP2|0.162483135|41.23%,EIF2AK1|0.036895941|66.83%

AKAP9
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 sm007-1 both 7 rs1989779
dbSNP Clinvar 		91632306 2914.77 C T . 1/1 82 SYNONYMOUS_CODING LOW None 0.93590 0.93590 0.09365 None None None None None None AKAP9|0.267262044|30.07%
View sm007-1 both 7 rs1063242
dbSNP Clinvar 		91714911 2124.77 C T . 1/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.99880 0.99880 0.00261 1.00 0.00 None None None None None None AKAP9|0.267262044|30.07%

ALKBH4
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 sm007-1 both 7 rs41275227
dbSNP Clinvar 		102098010 1109.77 G A . 0/1 78 NON_SYNONYMOUS_CODING MODERATE None 0.12760 0.12760 0.11502 0.05 0.04 None None None None None None ALKBH4|0.018242941|75.15%

AMPH
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 sm007-1 both 7 rs2215955
dbSNP Clinvar 		38469039 1573.77 C A . 0/1 101 None None None 0.30611 0.30610 0.00 0.91 None None None None None None AMPH|0.168231418|40.54%
View sm007-1 both 7 rs1058655
dbSNP Clinvar 		38431481 492.77 C A . 0/1 28 SYNONYMOUS_CODING LOW None 0.13239 0.13240 0.16223 None None None None None None AMPH|0.168231418|40.54%
View sm007-1 both 7 rs2392572
dbSNP Clinvar 		38468695 4918.77 C T . 1/1 143 None None None 0.89956 0.89960 0.77 0.00 None None None None None None AMPH|0.168231418|40.54%
View sm007-1 both 7 rs35024632
dbSNP Clinvar 		38433726 1089.77 T G . 0/1 65 NON_SYNONYMOUS_CODING MODERATE None 0.07009 0.07009 0.05259 0.33 0.08 None None None None None None AMPH|0.168231418|40.54%

AMZ1
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 sm007-1 both 7 rs7776970
dbSNP Clinvar 		2752487 919.77 G A . 0/1 69 NON_SYNONYMOUS_CODING MODERATE None 0.32149 0.32150 0.37199 0.62 0.00 None None None None None None AMZ1|0.018288269|75.12%
View sm007-1 both 7 rs798565
dbSNP Clinvar 		2752152 1090.77 G A . 0/1 83 SYNONYMOUS_CODING LOW None 0.17971 0.17970 0.22122 None None None None None None AMZ1|0.018288269|75.12%

ANKIB1
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 sm007-1 both 7 rs38794
dbSNP Clinvar 		92028039 1698.77 C A . 0/1 126 NON_SYNONYMOUS_CODING MODERATE None 0.43910 0.43910 0.44607 0.26 0.00 None None None None None None ANKIB1|0.445469557|18.4%

ANKMY2
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 sm007-1 both 7 rs3807506
dbSNP Clinvar 		16684398 383.77 G C . 0/1 37 None None None 0.00060 0.00060 0.58 None None None None None None ANKMY2|0.129496668|45.94%
View sm007-1 both 7 rs11531477
dbSNP Clinvar 		16666759 1512.77 G C . 1/1 45 SYNONYMOUS_CODING LOW None 0.00120 0.00120 0.17323 None None None None None None ANKMY2|0.129496668|45.94%
View sm007-1 both 7 rs11532682
dbSNP Clinvar 		16666741 1405.77 T G . 1/1 46 SYNONYMOUS_CODING LOW None 0.13998 0.14000 0.17354 None None None None None None ANKMY2|0.129496668|45.94%
View sm007-1 both 7 rs11540037
dbSNP Clinvar 		16655387 1701.77 C T . 0/1 95 SYNONYMOUS_CODING LOW None 0.17632 0.17630 0.17031 None None None None None None ANKMY2|0.129496668|45.94%

ANKRD61
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 sm007-1 both 7 rs4724769
dbSNP Clinvar 		6071060 1605.77 G A . 0/1 113 SYNONYMOUS_CODING LOW None 0.33766 0.33770 None None None None None None EIF2AK1|0.036895941|66.83%,ANKRD61|0.004895373|85.92%
View sm007-1 both 7 rs2302334
dbSNP Clinvar 		6075823 2326.77 A T . 0/1 185 NON_SYNONYMOUS_CODING MODERATE None 0.33387 0.33390 0.79 0.00 None None None None None None EIF2AK1|0.036895941|66.83%,ANKRD61|0.004895373|85.92%

ANLN
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 sm007-1 both 7 rs61549495
dbSNP Clinvar 		36447349 2180.73 A ACTT . 0/1 90 CODON_INSERTION MODERATE None 0.44948 0.44950 0.38393 None None None None None None ANLN|0.180116375|39.04%
View sm007-1 both 7 rs197367
dbSNP Clinvar 		36445856 3321.77 G A . 1/1 98 NON_SYNONYMOUS_CODING MODERATE None 0.62061 0.62060 0.46094 1.00 0.00 None None None None None None ANLN|0.180116375|39.04%

AOAH
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 sm007-1 both 7 rs57543920
dbSNP Clinvar 		36552790 4327.73 G GT . 1/1 112 FRAME_SHIFT HIGH None 0.87740 0.87740 None None None None None None AOAH|0.05743156|60.58%
View sm007-1 both 7 rs2228411
dbSNP Clinvar 		36763688 2160.77 C T . 0/1 164 SYNONYMOUS_CODING LOW None 0.37820 0.37820 0.41143 None None None None None None AOAH|0.05743156|60.58%
View sm007-1 both 7 rs2228410
dbSNP Clinvar 		36763672 2395.77 C T . 0/1 157 NON_SYNONYMOUS_CODING MODERATE None 0.35104 0.35100 0.26703 0.24 0.00 None None None None None None AOAH|0.05743156|60.58%
View sm007-1 both 7 rs59476355
dbSNP Clinvar 		36552729 5042.73 A AT . 1/1 134 FRAME_SHIFT HIGH None 0.99980 0.99980 None None None None None None AOAH|0.05743156|60.58%
View sm007-1 both 7 rs7790095
dbSNP Clinvar 		36729757 2401.77 T C . 1/1 70 None None None 0.82228 0.82230 None None None None None None AOAH|0.05743156|60.58%

AOC1
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 sm007-1 both 7 rs6943147
dbSNP Clinvar 		150556055 1965.77 C G . 1/1 54 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.08 0.00 None None None None None None AOC1|0.017990966|75.29%
View sm007-1 both 7 rs6943420
dbSNP Clinvar 		150556056 2012.77 G C . 1/1 54 SYNONYMOUS_CODING LOW None 1.00000 1.00000 None None None None None None AOC1|0.017990966|75.29%

ARHGEF35
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 sm007-1 both 7 rs4726676
dbSNP Clinvar 		143884103 1044.77 G A . 0/1 67 SYNONYMOUS_CODING LOW None 0.13099 0.13100 0.07784 None None None None None None ARHGEF35|0.000692626|97.3%

ASB15
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 sm007-1 both 7 rs6962756
dbSNP Clinvar 		123256427 1442.77 C T . 0/1 91 NON_SYNONYMOUS_CODING MODERATE None 0.77935 0.77940 0.21463 0.71 0.00 None None None None None None ASB15|0.249466416|31.55%
View sm007-1 both 7 rs4731112
dbSNP Clinvar 		123269118 8032.77 G C . 1/1 234 NON_SYNONYMOUS_CODING MODERATE None 0.79173 0.79170 0.28033 1.00 0.00 None None None None None None ASB15|0.249466416|31.55%
View sm007-1 both 7 rs11769381
dbSNP Clinvar 		123264804 1269.77 C T . 0/1 98 SYNONYMOUS_CODING LOW None 0.46965 0.46960 0.40997 None None None None None None ASB15|0.249466416|31.55%

ASIC3
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 sm007-1 both 7 rs200386051,rs3217353
dbSNP Clinvar 		150747933 2251.73 CC... C . 0/1 119 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None 0.02775 None None None None None None ASIC3|0.064485136|58.73%

ATG9B
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 sm007-1 both 7 rs11393607,rs77573754
dbSNP Clinvar 		150713902 896.73 G GC . 1/1 22 FRAME_SHIFT HIGH None 1.00000 1.00000 0.00099 None None None None None None ATG9B|0.090467592|53.12%
View sm007-1 both 7 rs1835428
dbSNP Clinvar 		150715817 4748.77 A G . 1/1 133 SYNONYMOUS_CODING LOW None 0.82069 0.82070 0.18169 None None None None None None ATG9B|0.090467592|53.12%

ATP6V0A4
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 sm007-1 both 7 rs1026435
dbSNP Clinvar 		138418910 2071.77 G A . 0/1 150 SYNONYMOUS_CODING LOW None 0.71665 0.71670 0.31678 None None None None None None ATP6V0A4|0.084008171|54.41%
View sm007-1 both 7 rs58568563
dbSNP Clinvar 		138433937 1444.77 G A . 1/1 44 SYNONYMOUS_CODING LOW None 0.06909 0.06909 0.05044 None None None None None None ATP6V0A4|0.084008171|54.41%
View sm007-1 both 7 rs3807154
dbSNP Clinvar 		138417718 907.77 A G . 0/1 84 SYNONYMOUS_CODING LOW None 0.67752 0.67750 0.36691 None None None None None None ATP6V0A4|0.084008171|54.41%

ATP6V1F
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 sm007-1 both 7 rs139719863
dbSNP Clinvar 		128505224 1196.77 G A . 0/1 87 NON_SYNONYMOUS_CODING MODERATE None 0.00260 0.00260 0.38 0.00 None None None None None None ATP6V1F|0.245384334|31.98%

BAIAP2L1
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 sm007-1 both 7 rs1045916
dbSNP Clinvar 		97933601 2621.77 C T . 1/1 77 SYNONYMOUS_CODING LOW None 0.55571 0.55570 0.37767 None None None None None None BRI3|0.027011351|70.88%,BAIAP2L1|0.061821177|59.37%

BAZ1B
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 sm007-1 both 7 rs2074754
dbSNP Clinvar 		72891754 2044.77 C T . 0/1 141 SYNONYMOUS_CODING LOW None 0.34764 0.34760 0.35192 None None None None None None BAZ1B|0.356018071|23.74%

BBS9
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 sm007-1 both 7 rs6974593
dbSNP Clinvar 		33385852 2265.77 C T . 0/1 130 None None None 0.91753 0.91750 0.17 0.00 None None None None None None BBS9|0.470844738|17.13%

BLACE
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 sm007-1 both 7 rs3922604
dbSNP Clinvar 		155150472 1111.77 G A . 0/1 87 NON_SYNONYMOUS_CODING MODERATE None 0.69129 0.69130 0.00 None None None None None None BLACE|0.00027534|99.52%
View sm007-1 both 7 rs6605562
dbSNP Clinvar 		155150602 2027.77 T C . 0/1 159 SYNONYMOUS_CODING LOW None 0.69728 0.69730 None None None None None None BLACE|0.00027534|99.52%
View sm007-1 both 7 rs7456618
dbSNP Clinvar 		155150765 2734.77 C T . 0/1 218 NON_SYNONYMOUS_CODING MODERATE None 0.50260 0.50260 0.41 None None None None None None BLACE|0.00027534|99.52%
View sm007-1 both 7 rs6605563
dbSNP Clinvar 		155150560 2098.77 A G . 0/1 138 SYNONYMOUS_CODING LOW None 0.69728 0.69730 None None None None None None BLACE|0.00027534|99.52%
View sm007-1 both 7 rs55989814
dbSNP Clinvar 		155150390 1633.77 T C . 0/1 98 NON_SYNONYMOUS_CODING MODERATE None 0.00799 0.00799 0.00 None None None None None None BLACE|0.00027534|99.52%

BLVRA
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 sm007-1 both 7 rs7738
dbSNP Clinvar 		43846603 1214.77 A G . 1/1 36 SYNONYMOUS_CODING LOW None 0.47504 0.47500 0.42926 None None None None None None BLVRA|0.055967808|60.91%
View sm007-1 both 7 rs699512
dbSNP Clinvar 		43810764 5248.77 G A . 1/1 152 NON_SYNONYMOUS_CODING MODERATE None 0.82109 0.82110 0.17999 0.52 0.00 None None None None None None BLVRA|0.055967808|60.91%

BMPER
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 sm007-1 both 7 rs6968741
dbSNP Clinvar 		34192762 3948.77 G C . 1/1 114 SYNONYMOUS_CODING LOW None 0.91014 0.91010 0.09696 None None None None None None BMPER|0.520309229|15%
View sm007-1 both 7 rs10265207
dbSNP Clinvar 		34009946 1933.77 C T . 1/1 55 SYNONYMOUS_CODING LOW None 0.42812 0.42810 0.43864 None None None None None None BMPER|0.520309229|15%

BRAT1
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 sm007-1 both 7 rs4719552
dbSNP Clinvar 		2578237 2135.77 T C . 0/1 143 SYNONYMOUS_CODING LOW None 0.46086 0.46090 0.35401 None None None None None None BRAT1|0.009530255|81.22%
View sm007-1 both 7 rs61627394
dbSNP Clinvar 		2578181 1242.77 C T . 0/1 90 NON_SYNONYMOUS_CODING MODERATE None 0.11661 0.11660 0.02836 0.57 0.01 None None None None None None BRAT1|0.009530255|81.22%
View sm007-1 both 7 rs77213198
dbSNP Clinvar 		2582907 2523.77 C T . 0/1 180 NON_SYNONYMOUS_CODING MODERATE None 0.09245 0.09245 0.00723 0.43 0.00 None None None None None None BRAT1|0.009530255|81.22%
View sm007-1 both 7 rs1043291
dbSNP Clinvar 		2577781 1150.77 T C . 0/1 86 SYNONYMOUS_CODING LOW None 0.46146 0.46150 0.43803 None None None None None None BRAT1|0.009530255|81.22%
View sm007-1 both 7 rs56727079
dbSNP Clinvar 		2578371 2464.77 G A . 0/1 193 NON_SYNONYMOUS_CODING MODERATE None 0.10982 0.10980 0.01931 0.00 1.00 None None None None None None BRAT1|0.009530255|81.22%