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+ Genes 487

Genes:
ABCA13, ABCB1, ABCB4, ABCB5, ABCF2, ABHD11, AC005008.2, AC011294.3, AC021218.2, AC091801.1, AC099552.4, AC110781.3, ACHE, ACTB, ACTR3C, ADAM22, ADAP1, ADCY1, AEBP1, AGBL3, AGFG2, AGR2, AIMP2, AKAP9, AKR1B10, AKR1B15, AMPH, ANKIB1, ANKMY2, ANKRD61, ANLN, AOAH, AOC1, AP4M1, ARMC10, ARPC1A, ASB10, ASB15, ASNS, ASZ1, ATP6V0A4, ATXN7L1, AVL9, AZGP1, BBS9, BLACE, BLVRA, BMPER, BRAT1, C7orf13, C7orf25, C7orf26, C7orf31, C7orf43, C7orf57, C7orf61, C7orf62, C7orf63, C7orf72, CADPS2, CALCR, CALU, CAMK2B, CAPZA2, CARD11, CASD1, CAV1, CCDC129, CCDC136, CCDC146, CCM2, CCT6A, CCZ1, CCZ1B, CDCA7L, CDHR3, CDK13, CFTR, CHN2, CLCN1, CLEC5A, CLIP2, CNOT4, CNTNAP2, COBL, COG5, COL1A2, COL26A1, COL28A1, CPA1, CPA2, CPA4, CPA5, CPED1, CPVL, CRCP, CREB3L2, CRHR2, CTAGE15, CTAGE6, CTAGE8, CUX1, CYP2W1, CYP3A43, CYP3A7, CYP51A1, CYTH3, DAGLB, DDC, DDX56, DENND2A, DFNA5, DGKB, DGKI, DMTF1, DNAH11, DNAJB6, DNAJC30, DPP6, DTX2, DYNC1I1, EEPD1, EGFR, ELN, EN2, EPHA1, EPHB4, ERV3-1, ERVW-1, ETV1, EXOC4, FAM115C, FAM126A, FAM131B, FAM185A, FAM188B, FAM20C, FAM220A, FAM71F1, FAM71F2, FBXL13, FBXL18, FBXO24, FIGNL1, FKBP6, FLNC, FOXK1, FOXP2, FSCN1, FSCN3, GAL3ST4, GALNTL5, GARS, GATS, GBX1, GCC1, GET4, GIGYF1, GIMAP1, GIMAP2, GIMAP5, GIMAP7, GLCCI1, GLI3, GNA12, GNAT3, GPNMB, GPR37, GPR85, GRB10, GRID2IP, GSAP, GTF2IRD1, GTF2IRD2, GTF2IRD2B, GTPBP10, GUSB, HDAC9, HEATR2, HECW1, HERPUD2, HGF, HIP1, HOXA4, HUS1, ICA1, IFRD1, IGF2BP3, IGFBP1, IGFBP3, IKZF1, IMPDH1, INMT, INTS1, IQCE, IQUB, ISPD, ITGB8, KCNH2, KDELR2, KDM7A, KIAA0087, KIAA0895, KIAA1549, KLF14, KLHL7, KMT2C, KMT2E, KPNA7, KRBA1, KRIT1, LAMB1, LAMB4, LAMTOR4, LANCL2, LHFPL3, LMOD2, LMTK2, LRCH4, LRGUK, LRRC4, LRRD1, LRWD1, MACC1, MAD1L1, MAGI2, MCM7, MDFIC, MDH2, MEPCE, MEST, MET, METTL2B, MGAM, MICALL2, MIOS, MKRN1, MLXIPL, MMD2, MPP6, MRPL32, MTERF, MUC12, MUC17, MUC3A, MYL10, MYO1G, NACAD, NAMPT, NAPEPLD, NAT16, NCF1, NME8, NOD1, NOM1, NOS3, NPC1L1, NPSR1, NPVF, NPY, NRCAM, NRF1, NUB1, NUDCD3, NUP205, NYAP1, OPN1SW, OR10AC1P, OR2A1, OR2A12, OR2A14, OR2A2, OR2A25, OR2A5, OR2A7, OR2F1, OR2F2, OR6B1, OR6V1, OSBPL3, PAX4, PAXIP1, PCLO, PDE1C, PDGFA, PEX1, PHF14, PHKG1, PIK3CG, PILRA, PKD1L1, PLXNA4, PMS2, PODXL, POLR2J2, POLR2J3, POM121, POM121C, POM121L12, POMZP3, PON1, POR, POT1, PPP1R3A, PPP1R9A, PRKAR1B, PRKAR2B, PRPS1L1, PRR15, PRRT4, PRSS1, PRSS37, PRSS58, PSMC2, PSPH, PTPN12, PTPRN2, PTPRZ1, PURB, PVRIG, RADIL, RAMP3, RAPGEF5, RARRES2, RASA4, RASA4B, RBAK, RBAK-RBAKDN, RBM33, REPIN1, RHBDD2, RNF32, RP11-1220K2.2, RP11-514P8.7, RSBN1L, RSPH10B, RSPH10B2, SAMD9, SDK1, SEMA3C, SEMA3E, SEPT14, SFRP4, SH2B2, SHFM1, SLC13A1, SLC26A3, SLC29A4, SLC37A3, SLC4A2, SMO, SND1, SNX8, SP8, SPAM1, SPDYE1, SPDYE2, SPDYE2B, SRCRB4D, ST7-OT4, STAG3, STEAP1, STEAP1B, STEAP2, STEAP4, STK17A, STK31, STX1A, STYXL1, SUGCT, SUMF2, SUN1, SVOPL, TAS2R16, TAS2R3, TAS2R38, TAS2R4, TAS2R5, TAS2R60, TBL2, TBXAS1, TECPR1, TFR2, THSD7A, TMED4, TMEM120A, TMEM130, TMEM140, TMEM176A, TMEM176B, TMEM178B, TMEM184A, TMEM209, TMEM243, TMEM60, TNPO3, TNRC18, TNS3, TRBC2, TRBV10-1, TRBV10-2, TRBV11-1, TRBV19, TRBV2, TRBV24-1, TRBV25-1, TRBV27, TRBV3-1, TRBV30, TRBV4-1, TRBV4-2, TRBV5-4, TRBV5-5, TRBV5-6, TRBV6-1, TRBV6-4, TRBV6-5, TRBV6-6, TRBV6-7, TRBV6-8, TRBV7-1, TRBV7-3, TRBV7-4, TRBV7-6, TRBV7-7, TRBV7-8, TRGV1, TRGV2, TRGV3, TRGV4, TRGV5, TRIM4, TRIM50, TRIM56, TRIM74, TSC22D4, TSPAN12, TSPAN13, TYW1, UBE3C, UPK3B, URGCP, VIPR2, VOPP1, VPS41, VWC2, VWDE, WASL, WBSCR17, WBSCR27, WBSCR28, WDR60, WDR86, WIPF3, WIPI2, WNT16, ZAN, ZBED6CL, ZC3HAV1, ZC3HC1, ZCWPW1, ZNF107, ZNF117, ZNF12, ZNF138, ZNF273, ZNF3, ZNF398, ZNF425, ZNF479, ZNF679, ZNF680, ZNF713, ZNF716, ZNF727, ZNF736, ZNF746, ZNF775, ZNF777, ZNF789, ZNF804B, ZNF853, ZNF862, ZNF92, ZP3, ZPBP, ZSCAN21,

+ Genes associated with diseases 92

Genes at Omim

ABCB1, ABCB4, ACHE, ACTB, ADAM22, ADCY1, AEBP1, AIMP2, AKAP9, ANLN, AP4M1, ASB10, ASNS, ATP6V0A4, BLVRA, BMPER, BRAT1, CALCR, CAMK2B, CARD11, CAV1, CDK13, CFTR, CLCN1, CNTNAP2, COG5, COL1A2, CUX1, DDC, DNAH11, DNAJB6, DPP6, EGFR, ELN, EPHB4, FAM126A, FAM20C, FLNC, FOXP2, GARS, GLCCI1, GLI3, GPNMB, GUSB, HGF, IKZF1, IMPDH1, IQCE, ISPD, KCNH2, KLHL7, KMT2C, LAMB1, MAD1L1, MAGI2, MDH2, MET, MMD2, NCF1, NME8, NOS3, NPC1L1, NPSR1, NUP205, OPN1SW, PAX4, PCLO, PDE1C, PEX1, PKD1L1, PMS2, PON1, POR, POT1, PPP1R3A, PRSS1, PSPH, PTPN12, SAMD9, SEMA3E, SFRP4, SHFM1, SLC26A3, STAG3, TAS2R16, TAS2R38, TBXAS1, TFR2, TNPO3, TSPAN12, WDR60, ZP3,
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)
ACTB Baraitser-Winter syndrome 1, 243310 (3)
?Dystonia, juvenile-onset, 607371 (3)
ADAM22 ?Epileptic encephalopathy, early infantile, 61, 617933 (3)
ADCY1 ?Deafness, autosomal recessive 44, 610154 (3)
AEBP1 Ehlers-Danlos syndrome, classic-like, 2, 618000 (3)
AIMP2 Leukodystrophy, hypomyelinating, 17, 618006 (3)
AKAP9 ?Long QT syndrome-11, 611820 (3)
ANLN Focal segmental glomerulosclerosis 8, 616032 (3)
AP4M1 Spastic paraplegia 50, autosomal recessive, 612936 (3)
ASB10 Glaucoma 1, open angle, F, 603383 (3)
ASNS Asparagine synthetase deficiency, 615574 (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)
ELN Cutis laxa, autosomal dominant, 123700 (3)
Supravalvar aortic stenosis, 185500 (3)
EPHB4 Capillary malformation-arteriovenous malformation 2, 618196 (3)
Lymphatic malformation 7, 617300 (3)
FAM126A Leukodystrophy, hypomyelinating, 5, 610532 (3)
FAM20C Raine syndrome, 259775 (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)
HGF Deafness, autosomal recessive 39, 608265 (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)
KLHL7 Cold-induced sweating syndrome 3, 617055 (3)
Retinitis pigmentosa 42, 612943 (3)
KMT2C Kleefstra syndrome 2, 617768 (3)
LAMB1 Lissencephaly 5, 615191 (3)
MAD1L1 Lymphoma, somatic (3)
Prostate cancer, somatic, 176807 (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)
MMD2 Miyoshi muscular dystrophy 2 (2)
NCF1 Chronic granulomatous disease due to deficiency of NCF-1, 233700 (3)
NME8 Ciliary dyskinesia, primary, 6, 610852 (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)
NUP205 ?Nephrotic syndrome, type 13, 616893 (3)
OPN1SW Colorblindness, tritan, 190900 (3)
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)
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)
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)
SAMD9 MIRAGE syndrome, 617053 (3)
Tumoral calcinosis, familial, normophosphatemic, 610455 (3)
SEMA3E ?CHARGE syndrome, 214800 (3)
SFRP4 Pyle disease, 265900 (3)
SHFM1 Split hand/foot malformation 1 (4)
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)
TBXAS1 Ghosal hematodiaphyseal syndrome, 231095 (3)
?Thromboxane synthase deficiency, 614158 (1)
TFR2 Hemochromatosis, type 3, 604250 (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)
ZP3 Oocyte maturation defect 3, 617712 (3)

Genes at Clinical Genomics Database

ABCB1, ABCB4, ACHE, ACTB, ADCY1, AKAP9, ANLN, AP4M1, ASNS, ATP6V0A4, BBS9, BLVRA, BMPER, BRAT1, CARD11, CAV1, CCM2, CFTR, CLCN1, CNTNAP2, COG5, COL1A2, DDC, DFNA5, DNAH11, DNAJB6, DPP6, EGFR, ELN, FAM126A, FAM20C, FLNC, FOXP2, GARS, GLI3, GUSB, HGF, IKZF1, IMPDH1, ISPD, KCNH2, KLHL7, KRIT1, LAMB1, MET, NCF1, NME8, NPC1L1, NUP205, OPN1SW, PAX4, PEX1, PMS2, PON1, POR, POT1, PPP1R3A, PRSS1, PSPH, SAMD9, SEMA3E, SLC26A3, STAG3, SUGCT, TAS2R38, TBXAS1, TFR2, 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
ACTB Baraitser-Winter syndrome 1
ADCY1 Deafness, autosomal dominant 44
AKAP9 Long QT syndrome 11
ANLN Focal segmental glomerulosclerosis 8
AP4M1 Spastic paraplegia 50, autosomal recessive
ASNS Asparagine synthetase deficiency
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
CCM2 Cerebral cavernous malformations 2
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
ELN Cutis laxa, autosomal dominant 1
Supravalvular aortic stenosis
FAM126A Leukodystrophy, hypomyelinating, 5
FAM20C Hypophosphatemia,hyperphosphaturia, dental anomalies, intracerebral calcifications and osteosclerosis (Raine syndrome)
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
HGF Deafness, autosomal recessive 39
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
KLHL7 Retinitis pigmentosa 42
KRIT1 Cerebral cavernous malformations 1
LAMB1 Lissencephaly 5
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
NPC1L1 Ezetimibe, nonresponse to
NUP205 Nephrotic syndrome, type 13
OPN1SW Tritanopia
PAX4 Diabetes mellitus
PEX1 Heimler syndrome 1
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
PPP1R3A Insulin resistance, severe, digenic
PRSS1 Pancreatitis, hereditary
PSPH Phosphoserine phosphatase deficiency
SAMD9 Tumoral calcinosis, normophosphatemic
SEMA3E CHARGE syndrome
SLC26A3 Diarrhea 1, secretory chloride, congenital
STAG3 Premature ovarian failure 8
SUGCT Glutaric aciduria III
TAS2R38 Thiourea tasting
Phenylthiocarbamide tasting
TBXAS1 Ghosal hematodiaphyseal syndrome
TFR2 Hemochromatosis, type 3
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: 3861
Number of Genes: 487

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 fpd-alg-mad-1230-3 7 rs1880738
dbSNP Clinvar 		48285485 2437.0 C T PASS 0/1 76 NON_SYNONYMOUS_CODING MODERATE None 0.40655 0.40650 0.35164 0.00 None None None None None None ABCA13|0.04721773|63.52%
View fpd-alg-mad-1230-3 7 rs1358066
dbSNP Clinvar 		48312674 4835.0 G A PASS 1/1 75 SYNONYMOUS_CODING LOW None 0.57528 0.57530 0.49452 None None None None None None ABCA13|0.04721773|63.52%
View fpd-alg-mad-1230-3 7 rs77190804
dbSNP Clinvar 		48313757 1111.0 G A PASS 0/1 105 SYNONYMOUS_CODING LOW None 0.09625 0.09625 0.07358 None None None None None None ABCA13|0.04721773|63.52%
View fpd-alg-mad-1230-3 7 rs17712299
dbSNP Clinvar 		48313881 2568.0 T C PASS 0/1 212 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 fpd-alg-mad-1230-3 7 rs1880736
dbSNP Clinvar 		48315796 12065.0 C A PASS 1/1 154 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 fpd-alg-mad-1230-3 7 rs78334925
dbSNP Clinvar 		48317708 2280.0 A C PASS 0/1 152 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 fpd-alg-mad-1230-3 7 rs536708068
dbSNP Clinvar 		48318770 730.0 A G PASS 0/1 53 NON_SYNONYMOUS_CODING MODERATE None 0.00 None None None None None None ABCA13|0.04721773|63.52%
View fpd-alg-mad-1230-3 7 rs2222648
dbSNP Clinvar 		48318811 14104.0 C T PASS 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 fpd-alg-mad-1230-3 7 rs6583546
dbSNP Clinvar 		48336844 6935.0 C T PASS 1/1 111 SYNONYMOUS_CODING LOW None 0.76897 0.76900 0.35105 None None None None None None ABCA13|0.04721773|63.52%
View fpd-alg-mad-1230-3 7 rs3931814
dbSNP Clinvar 		48349647 1025.0 C T PASS 0/1 115 NON_SYNONYMOUS_CODING MODERATE None 0.10963 0.10960 0.11313 0.00 None None None None None None ABCA13|0.04721773|63.52%
View fpd-alg-mad-1230-3 7 rs17548783
dbSNP Clinvar 		48450157 7660.0 T C PASS 0/1 65 SYNONYMOUS_CODING LOW None 0.46266 0.46270 0.46629 None None None None None None ABCA13|0.04721773|63.52%
View fpd-alg-mad-1230-3 7 rs4917152
dbSNP Clinvar 		48506566 1494.0 A G PASS 0/1 89 NON_SYNONYMOUS_CODING MODERATE None 0.23083 0.23080 0.17826 0.00 None None None None None None ABCA13|0.04721773|63.52%
View fpd-alg-mad-1230-3 7 rs4917153
dbSNP Clinvar 		48506642 1395.0 A G PASS 0/1 87 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 fpd-alg-mad-1230-3 7 rs6583448
dbSNP Clinvar 		48545976 25898.0 A G PASS 1/1 60 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 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 fpd-alg-mad-1230-3 7 rs1045642
dbSNP Clinvar 		87138645 10521.0 A G PASS 0/1 77 SYNONYMOUS_CODING LOW None 0.60483 0.60480 0.42334 None None None None None None ABCB1|0.831468236|5.08%
View fpd-alg-mad-1230-3 7 rs2032582
dbSNP Clinvar 		87160618 17730.0 A C PASS 0/1 107 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%
View fpd-alg-mad-1230-3 7 rs1128503
dbSNP Clinvar 		87179601 7745.0 A G PASS 0/1 43 SYNONYMOUS_CODING LOW None 0.58387 0.58390 0.35760 None None None None None None ABCB1|0.831468236|5.08%
View fpd-alg-mad-1230-3 7 rs9282564
dbSNP Clinvar 		87229440 1513.0 T C PASS 0/1 135 NON_SYNONYMOUS_CODING MODERATE None 0.02596 0.02596 0.07504 0.56 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 fpd-alg-mad-1230-3 7 rs1202283
dbSNP Clinvar 		87082292 6977.0 G A PASS 0/1 112 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 fpd-alg-mad-1230-3 7 rs62453384
dbSNP Clinvar 		20762646 5548.0 G T PASS 0/1 79 NON_SYNONYMOUS_CODING MODERATE None 0.23223 0.23220 0.29909 0.00 0.57 None None None None None None ABCB5|0.12579132|46.5%
View fpd-alg-mad-1230-3 7 rs6461515
dbSNP Clinvar 		20778646 26308.0 G A PASS 1/1 136 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%

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 fpd-alg-mad-1230-3 7 rs6464133
dbSNP Clinvar 		150921950 11838.0 A G PASS 0/1 84 SYNONYMOUS_CODING LOW None 0.73902 0.73900 0.28925 None None None None None None ABCF2|0.445512851|18.39%

ABHD11
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 fpd-alg-mad-1230-3 7 rs6460052
dbSNP Clinvar 		73151644 2908.0 A G PASS 0/1 15 SYNONYMOUS_CODING LOW None 0.60463 0.60460 0.41458 None None None None None None ABHD11|0.015871051|76.55%

AC005008.2
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 fpd-alg-mad-1230-3 7 rs11972689
dbSNP Clinvar 		80805263 7234.0 C T PASS 0/1 87 NON_SYNONYMOUS_CODING MODERATE None 0.27756 0.27760 0.81 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 fpd-alg-mad-1230-3 7 rs700747
dbSNP Clinvar 		46732428 22805.0 A G PASS 1/1 76 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 fpd-alg-mad-1230-3 7 rs1551630
dbSNP Clinvar 		155757502 4798.0 T C PASS 1/1 14 NON_SYNONYMOUS_CODING MODERATE None 0.96965 0.96960 0.00 None None None None None None None
View fpd-alg-mad-1230-3 7 rs2007015
dbSNP Clinvar 		155755826 2776.0 A G PASS 0/1 15 SYNONYMOUS_CODING LOW None 0.70647 0.70650 None None None None None None None

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 fpd-alg-mad-1230-3 7 rs572217358
dbSNP Clinvar 		3188696 44.0 G A AltDepth 0/1 14 SYNONYMOUS_CODING LOW None 0.00020 None None None None None None None
View fpd-alg-mad-1230-3 7 rs4634530
dbSNP Clinvar 		3197867 6560.0 T C PASS 1/1 58 None None None 0.44828 0.44830 None None None None None None None

AC099552.4
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 7 rs28664023
dbSNP Clinvar 		154989982 7784.0 G A PASS 1/1 101 NON_SYNONYMOUS_CODING MODERATE None 0.29633 0.29630 0.00 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 fpd-alg-mad-1230-3 7 rs3889573
dbSNP Clinvar 		1878377 9992.0 A G PASS 1/1 44 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 fpd-alg-mad-1230-3 7 rs1799806
dbSNP Clinvar 		100488658 804.0 G C PASS 1/1 8 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%
View fpd-alg-mad-1230-3 7 rs17885778
dbSNP Clinvar 		100491451 599.0 G C PASS 0/1 42 NON_SYNONYMOUS_CODING MODERATE None 0.00040 0.00040 0.00054 0.00 0.98 None None None None None None ACHE|0.455026425|17.93%

ACTB
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 fpd-alg-mad-1230-3 7 rs11546939
dbSNP Clinvar 		5567677 1433.0 C T PASS 0/1 130 SYNONYMOUS_CODING LOW None 0.02716 0.02716 0.03506 None None None None None None ACTB|0.99171524|1.03%

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 fpd-alg-mad-1230-3 7 rs28634863
dbSNP Clinvar 		149983565 5823.0 T C PASS 0/1 160 NON_SYNONYMOUS_CODING MODERATE None 0.28854 0.28850 0.46 0.00 None None None None None None ACTR3C|0.005900668|84.7%

ADAM22
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 fpd-alg-mad-1230-3 7 rs2279542
dbSNP Clinvar 		87564497 1354.0 C G AltDepth 0/1 6 NON_SYNONYMOUS_CODING MODERATE None 0.63039 0.63040 0.36502 0.75 0.01 None None None None None None ADAM22|0.517774472|15.06%
View fpd-alg-mad-1230-3 7 rs17255978
dbSNP Clinvar 		87754915 5868.0 G A PASS 0/1 146 NON_SYNONYMOUS_CODING MODERATE None 0.08107 0.08107 0.05841 0.29 0.00 None None None None None None ADAM22|0.517774472|15.06%

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 fpd-alg-mad-1230-3 7 rs10256887
dbSNP Clinvar 		940181 2968.0 C T PASS 1/1 16 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 fpd-alg-mad-1230-3 7 rs3808343
dbSNP Clinvar 		960450 5932.0 C T PASS 0/1 121 None None None 0.03634 0.03634 None None None None None None ADAP1|0.029140217|69.81%,COX19|0.030938283|68.99%

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 fpd-alg-mad-1230-3 7 rs1042009
dbSNP Clinvar 		45703971 5462.0 G A PASS 0/1 41 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 fpd-alg-mad-1230-3 7 rs2537188
dbSNP Clinvar 		44147485 5346.0 C A PASS 1/1 31 NON_SYNONYMOUS_CODING MODERATE None 0.35743 0.35740 0.36568 0.35 0.01 None None None None None None AEBP1|0.046717327|63.68%
View fpd-alg-mad-1230-3 7 rs2595701
dbSNP Clinvar 		44148553 12789.0 A G PASS 1/1 71 SYNONYMOUS_CODING LOW None 0.78874 0.78870 0.25836 None None None None None None AEBP1|0.046717327|63.68%

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 fpd-alg-mad-1230-3 7 rs9656447
dbSNP Clinvar 		134719551 32265.0 C G PASS 1/1 113 SYNONYMOUS_CODING LOW None 0.90974 0.90970 0.06855 None None None None None None AGBL3|0.045265094|64.12%
View fpd-alg-mad-1230-3 7 rs4236655
dbSNP Clinvar 		134701856 34476.0 G C PASS 1/1 124 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 fpd-alg-mad-1230-3 7 rs2348049
dbSNP Clinvar 		134678253 11923.0 T A PASS 1/1 85 NON_SYNONYMOUS_CODING MODERATE None 0.22923 0.22920 0.07 0.09 None None None None None None AGBL3|0.045265094|64.12%

AGFG2
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 fpd-alg-mad-1230-3 7 rs17855473
dbSNP Clinvar 		100160264 2369.0 T C PASS 0/1 74 NON_SYNONYMOUS_CODING MODERATE None 0.18171 0.18170 0.23005 0.60 0.00 None None None None None None AGFG2|0.11533807|48.22%

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 fpd-alg-mad-1230-3 7 rs4719480
dbSNP Clinvar 		16834551 22761.0 C A PASS 1/1 112 None None None 0.91633 0.91630 0.13063 0.00 0.00 None None None None None None AGR2|0.129707594|45.92%
View fpd-alg-mad-1230-3 7 rs6842
dbSNP Clinvar 		16834597 8144.0 A G PASS 1/1 119 SYNONYMOUS_CODING LOW None 0.33546 0.33550 0.38490 None None None None None None AGR2|0.129707594|45.92%

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 fpd-alg-mad-1230-3 7 rs4560
dbSNP Clinvar 		6063283 15219.0 C T PASS 1/1 156 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 fpd-alg-mad-1230-3 7 rs6964587
dbSNP Clinvar 		91630620 6190.0 G T PASS 0/1 96 NON_SYNONYMOUS_CODING MODERATE None 0.37220 0.37220 0.44047 0.05 0.00 None None None None None None AKAP9|0.267262044|30.07%
View fpd-alg-mad-1230-3 7 rs34370932
dbSNP Clinvar 		91632013 2119.0 T C PASS 0/1 93 SYNONYMOUS_CODING LOW None 0.01438 0.01438 0.01438 None None None None None None AKAP9|0.267262044|30.07%
View fpd-alg-mad-1230-3 7 rs1989779
dbSNP Clinvar 		91632306 23125.0 C T PASS 1/1 85 SYNONYMOUS_CODING LOW None 0.93590 0.93590 0.09365 None None None None None None AKAP9|0.267262044|30.07%
View fpd-alg-mad-1230-3 7 rs13245393
dbSNP Clinvar 		91641928 5435.0 A G PASS 0/1 69 SYNONYMOUS_CODING LOW None 0.37380 0.37380 0.44180 None None None None None None AKAP9|0.267262044|30.07%
View fpd-alg-mad-1230-3 7 rs10236397
dbSNP Clinvar 		91691601 6948.0 C T PASS 0/1 136 SYNONYMOUS_CODING LOW None 0.35982 0.35980 0.42773 None None None None None None AKAP9|0.267262044|30.07%
View fpd-alg-mad-1230-3 7 rs10228334
dbSNP Clinvar 		91713972 8264.0 C T PASS 0/1 111 None None None 0.37380 0.37380 0.44096 None None None None None None AKAP9|0.267262044|30.07%
View fpd-alg-mad-1230-3 7 rs1063242
dbSNP Clinvar 		91714911 46462.0 C T PASS 1/1 224 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%
View fpd-alg-mad-1230-3 7 rs34956633
dbSNP Clinvar 		91726604 714.0 A G PASS 0/1 24 NON_SYNONYMOUS_CODING MODERATE None 0.01338 0.01338 0.01354 0.08 0.14 None None None None None None AKAP9|0.267262044|30.07%
View fpd-alg-mad-1230-3 7 rs1063243
dbSNP Clinvar 		91726927 10452.0 A C PASS 0/1 187 SYNONYMOUS_CODING LOW None 0.37740 0.37740 0.44626 None None None None None None AKAP9|0.267262044|30.07%
View fpd-alg-mad-1230-3 7 rs56198613
dbSNP Clinvar 		91729054 775.0 G A PASS 0/1 64 SYNONYMOUS_CODING LOW None 0.00060 0.00060 0.00131 None None None None None None AKAP9|0.267262044|30.07%

AKR1B10
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 fpd-alg-mad-1230-3 7 rs28545160
dbSNP Clinvar 		134221826 2707.0 A G PASS 1/1 18 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None None None None None None None AKR1B10|0.014962544|77.15%
View fpd-alg-mad-1230-3 7 rs4728329
dbSNP Clinvar 		134225827 23050.0 A G PASS 1/1 76 NON_SYNONYMOUS_CODING MODERATE None 0.96945 0.96940 0.06343 0.20 0.00 None None None None None None AKR1B10|0.014962544|77.15%
View fpd-alg-mad-1230-3 7 rs1722883
dbSNP Clinvar 		134215403 8421.0 T C PASS 1/1 68 SYNONYMOUS_CODING LOW None 0.53315 0.53310 0.44526 None None None None None None AKR1B10|0.014962544|77.15%

AKR1B15
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 fpd-alg-mad-1230-3 7 rs6467538
dbSNP Clinvar 		134264286 2864.0 C T PASS 1/1 34 SYNONYMOUS_CODING LOW None 0.33566 0.33570 0.39942 None None None None None None AKR1B15|0.005314714|85.4%

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 fpd-alg-mad-1230-3 7 rs6949992
dbSNP Clinvar 		38431430 3747.0 A G PASS 1/1 139 SYNONYMOUS_CODING LOW None 0.06989 0.06989 0.07320 None None None None None None AMPH|0.168231418|40.54%
View fpd-alg-mad-1230-3 7 rs35024632
dbSNP Clinvar 		38433726 2119.0 T G PASS 1/1 86 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%
View fpd-alg-mad-1230-3 7 rs2392572
dbSNP Clinvar 		38468695 15306.0 C T PASS 1/1 64 None None None 0.89956 0.89960 0.77 0.00 None None None None None None AMPH|0.168231418|40.54%

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 fpd-alg-mad-1230-3 7 rs1861635
dbSNP Clinvar 		92027537 3558.0 C G PASS 0/1 114 SYNONYMOUS_CODING LOW None 0.15475 0.15480 0.08448 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 fpd-alg-mad-1230-3 7 rs11540037
dbSNP Clinvar 		16655387 10892.0 C T PASS 1/1 107 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 fpd-alg-mad-1230-3 7 rs4724769
dbSNP Clinvar 		6071060 8451.0 G A PASS 1/1 67 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 fpd-alg-mad-1230-3 7 rs2302334
dbSNP Clinvar 		6075823 19352.0 A T PASS 1/1 169 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 fpd-alg-mad-1230-3 7 rs197367
dbSNP Clinvar 		36445856 17175.0 G A PASS 1/1 109 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 fpd-alg-mad-1230-3 7 rs2228411
dbSNP Clinvar 		36763688 6865.0 C T PASS 1/1 82 SYNONYMOUS_CODING LOW None 0.37820 0.37820 0.41143 None None None None None None AOAH|0.05743156|60.58%
View fpd-alg-mad-1230-3 7 rs7790095
dbSNP Clinvar 		36729757 28644.0 T C PASS 1/1 138 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
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View fpd-alg-mad-1230-3 7 rs1049748
dbSNP Clinvar 		150556002 20040.0 T C PASS 0/1 158 SYNONYMOUS_CODING LOW None 0.51578 0.51580 0.44399 None None None None None None AOC1|0.017990966|75.29%
View fpd-alg-mad-1230-3 7 rs1049793
dbSNP Clinvar 		150557665 9783.0 C G PASS 0/1 81 NON_SYNONYMOUS_CODING MODERATE None 0.45328 0.45330 0.35484 1.00 0.00 None None None None None None AOC1|0.017990966|75.29%
View fpd-alg-mad-1230-3 7 rs12179
dbSNP Clinvar 		150557622 9039.0 G A PASS 0/1 74 SYNONYMOUS_CODING LOW None 0.45328 0.45330 0.35954 None None None None None None AOC1|0.017990966|75.29%
View fpd-alg-mad-1230-3 7 rs6943420
dbSNP Clinvar 		150556056 77067.0 G C PASS 1/1 137 SYNONYMOUS_CODING LOW None 1.00000 1.00000 None None None None None None AOC1|0.017990966|75.29%
View fpd-alg-mad-1230-3 7 rs6943147
dbSNP Clinvar 		150556055 74711.0 C G PASS 1/1 138 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 fpd-alg-mad-1230-3 7 rs10156191
dbSNP Clinvar 		150553605 10666.0 C T PASS 0/1 159 NON_SYNONYMOUS_CODING MODERATE None 0.31290 0.31290 0.34375 0.32 0.00 None None None None None None AOC1|0.017990966|75.29%
View fpd-alg-mad-1230-3 7 rs10893
dbSNP Clinvar 		150555915 12714.0 A G PASS 0/1 129 SYNONYMOUS_CODING LOW None 0.45907 0.45910 0.35710 None None None None None None AOC1|0.017990966|75.29%

AP4M1
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 fpd-alg-mad-1230-3 7 rs41280968
dbSNP Clinvar 		99702947 246.0 G A PASS 0/1 38 NON_SYNONYMOUS_CODING MODERATE None 0.03095 0.03095 0.07235 0.08 0.00 None None None None None None AP4M1|0.135569421|45.04%

ARMC10
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 fpd-alg-mad-1230-3 7 rs14029
dbSNP Clinvar 		102738862 2998.0 T C PASS 0/1 237 SYNONYMOUS_CODING LOW None 0.07627 None None None None None None ARMC10|0.030367771|69.22%

ARPC1A
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 fpd-alg-mad-1230-3 7 . 98955969 515.0 G A PASS 0/1 75 SYNONYMOUS_CODING LOW None None None None None None None ARPC1A|0.420074509|19.57%

ASB10
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 fpd-alg-mad-1230-3 7 rs61743170
dbSNP Clinvar 		150878332 1110.0 G A PASS 0/1 62 SYNONYMOUS_CODING LOW None 0.09046 0.09046 0.07968 None None None None None None ASB10|0.051312988|62.24%
View fpd-alg-mad-1230-3 7 rs2253592
dbSNP Clinvar 		150878260 2516.0 C G PASS 1/1 23 SYNONYMOUS_CODING LOW None 0.50379 0.50380 0.48337 None None None None None None ASB10|0.051312988|62.24%
View fpd-alg-mad-1230-3 7 rs62489646
dbSNP Clinvar 		150873754 642.0 G A PASS 0/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.07668 0.07668 0.10 0.93 None None None None None None ASB10|0.051312988|62.24%

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 fpd-alg-mad-1230-3 7 rs11769381
dbSNP Clinvar 		123264804 14386.0 C T PASS 0/1 124 SYNONYMOUS_CODING LOW None 0.46965 0.46960 0.40997 None None None None None None ASB15|0.249466416|31.55%
View fpd-alg-mad-1230-3 7 rs6962756
dbSNP Clinvar 		123256427 25372.0 C T PASS 1/1 89 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 fpd-alg-mad-1230-3 7 rs4731112
dbSNP Clinvar 		123269118 12468.0 G C PASS 0/1 74 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%

ASNS
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 fpd-alg-mad-1230-3 7 rs1049674
dbSNP Clinvar 		97488569 15736.0 A T PASS 0/1 81 NON_SYNONYMOUS_CODING MODERATE None 0.87600 0.87600 0.19922 1.00 0.00 None None None None None None ASNS|0.144831856|43.74%

ASZ1
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 fpd-alg-mad-1230-3 7 rs1029396
dbSNP Clinvar 		117024820 2042.0 T G PASS 0/1 114 NON_SYNONYMOUS_CODING MODERATE None 0.22424 0.22420 0.07543 0.00 0.11 None None None None None None ASZ1|0.141301236|44.23%

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 fpd-alg-mad-1230-3 7 rs10258719
dbSNP Clinvar 		138455988 13246.0 A G PASS 1/1 69 NON_SYNONYMOUS_CODING MODERATE None 0.67951 0.67950 0.26780 0.19 0.00 None None None None None None ATP6V0A4|0.084008171|54.41%
View fpd-alg-mad-1230-3 7 rs3807154
dbSNP Clinvar 		138417718 15318.0 A G PASS 1/1 79 SYNONYMOUS_CODING LOW None 0.67752 0.67750 0.36691 None None None None None None ATP6V0A4|0.084008171|54.41%
View fpd-alg-mad-1230-3 7 rs1026435
dbSNP Clinvar 		138418910 15130.0 G A PASS 1/1 65 SYNONYMOUS_CODING LOW None 0.71665 0.71670 0.31678 None None None None None None ATP6V0A4|0.084008171|54.41%

ATXN7L1
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 fpd-alg-mad-1230-3 7 rs61749986
dbSNP Clinvar 		105254382 557.0 C T PASS 0/1 35 NON_SYNONYMOUS_CODING MODERATE None 0.02376 0.02376 0.01708 1.00 0.00 None None None None None None ATXN7L1|0.537691769|14.3%

AVL9
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 fpd-alg-mad-1230-3 7 rs2290213
dbSNP Clinvar 		32598630 2043.0 T C,A PASS 2/2 36 NON_SYNONYMOUS_CODING MODERATE None 0.01478 0.15580 0.14547 0.55 0.00 None None None None None None AVL9|0.207787031|35.83%
View fpd-alg-mad-1230-3 7 rs2290214
dbSNP Clinvar 		32598656 2745.0 C T PASS 1/1 40 SYNONYMOUS_CODING LOW None 0.24082 0.24080 0.21951 None None None None None None AVL9|0.207787031|35.83%
View fpd-alg-mad-1230-3 7 rs34778959
dbSNP Clinvar 		32623477 2565.0 C G PASS 1/1 23 SYNONYMOUS_CODING LOW None 0.21625 0.21630 0.19184 None None None None None None AVL9|0.207787031|35.83%

AZGP1
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 fpd-alg-mad-1230-3 7 rs4215
dbSNP Clinvar 		99569394 19078.0 G A PASS 1/1 110 SYNONYMOUS_CODING LOW None 0.37440 0.37440 0.30471 None None None None None None AZGP1|0.002916954|88.79%

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 fpd-alg-mad-1230-3 7 rs6974593
dbSNP Clinvar 		33385852 42457.0 C T PASS 1/1 150 None None None 0.91753 0.91750 0.17 0.00 None None None None None None BBS9|0.470844738|17.13%