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Genes:
ABCA13, ABCB1, ABCB4, ABCB5, ABCB8, ABCF2, ABHD11, AC021218.2, ACTR3C, ADAM22, ADAP1, ADCY1, AEBP1, AGAP3, AGBL3, AGR2, AHCYL2, AHR, AKAP9, AKR1B10, AMPH, AMZ1, ANKIB1, ANKRD61, ANKRD7, ANLN, AOAH, AOC1, ARHGEF5, ARMC10, ARPC1B, ASB10, ASB15, ASNS, ASZ1, ATG9B, ATP6V0A4, ATP6V1F, AUTS2, AVL9, AZGP1, BAZ1B, BBS9, BLACE, BLVRA, BMPER, BRAF, BRAT1, C7orf25, C7orf31, C7orf57, C7orf63, C7orf72, CACNA2D1, CADPS2, CALCR, CALD1, CAMK2B, CAPZA2, CARD11, CASP2, CAV1, CCDC129, CCDC132, CCDC136, CCDC146, CCL24, CCM2, CCT6A, CCZ1, CDCA7L, CDHR3, CDK13, CFTR, CHN2, CHPF2, CHST12, CLCN1, CLIP2, CNOT4, COBL, COG5, COL1A2, COL26A1, COL28A1, CPA1, CPA2, CPA4, CPA5, CPED1, CPVL, CRCP, CREB3L2, CROT, CRYGN, CTAGE4, CTAGE6, CTAGE8, CUX1, CYP2W1, CYP3A7, CYTH3, DAGLB, DDC, DDX56, DENND2A, DFNA5, DGKB, DGKI, DMTF1, DNAH11, DNAJB6, DNAJB9, DNAJC30, DPP6, DTX2, EEPD1, EGFR, EIF2AK1, EIF3B, EN2, EPDR1, EPHA1, EPHB4, ERV3-1, ERVW-1, ESYT2, ETV1, EXOC4, FAM115C, FAM126A, FAM185A, FAM220A, FAM221A, FAM71F1, FBXL13, FBXL18, FERD3L, FKBP9, FLNC, FOXK1, FZD1, GAL3ST4, GALNTL5, GCC1, GET4, GIGYF1, GIMAP2, GIMAP6, GIMAP7, GIMAP8, GLCCI1, GLI3, GNAT3, GPC2, GPNMB, GPR141, GPR37, GPR85, GRB10, GRID2IP, GSAP, GTF2IRD1, GTF2IRD2, GTF2IRD2B, GTPBP10, GUSB, HDAC9, HEATR2, HECW1, HEPACAM2, HERPUD2, HIP1, HOXA1, HOXA4, HOXA7, HUS1, ICA1, IGFBP1, IGFBP3, IKZF1, IL6, ING3, INMT, INTS1, IQCE, IRF5, ISPD, ITGB8, KCNH2, KDELR2, KDM7A, KIAA0895, KIAA1147, KIAA1549, KLF14, KLHL7, KLRG2, KMT2C, KMT2E, KPNA7, KRBA1, KRIT1, LAMB1, LAMTOR4, LANCL2, LFNG, LIMK1, LMBR1, LMOD2, LMTK2, LRGUK, LRRC17, LRRC4, LRRC61, LRRC72, LRRD1, LRWD1, LSM5, LUC7L2, MACC1, MAD1L1, MAGI2, MCM7, MDFIC, MDH2, MEOX2, MET, METTL2B, MGAM, MICALL2, MIOS, MLXIPL, MPP6, MRPL32, MTURN, MUC12, MUC17, MUC3A, MYL7, MYO1G, NACAD, NAMPT, NAPEPLD, NCAPG2, NCF1, NFE2L3, NME8, NOBOX, NOD1, NOM1, NOS3, NPC1L1, NPSR1, NPVF, NPY, NRCAM, NT5C3A, NUB1, NUP205, OGDH, OR10AC1P, OR2A1, OR2A14, OR2A2, OR2A25, OR2A5, OR2A7, OR2AE1, OR6B1, OSBPL3, PAPOLB, PARP12, PAX4, PAXIP1, PCLO, PDE1C, PDK4, PEX1, PHTF2, PIK3CG, PKD1L1, PLXNA4, PMPCB, PMS2, PODXL, POLR2J3, POM121, POM121C, POM121L12, POMZP3, PON2, PON3, POR, POT1, POU6F2, PPP1R3A, PPP1R9A, PRKAR1B, PRKRIP1, PRR15, PRRT4, PRSS1, PRSS37, PSMC2, PSMG3, PSPH, PTPN12, PTPRN2, PTPRZ1, RADIL, RAPGEF5, RARRES2, RASA4, RASA4B, RBAK, RBAK-RBAKDN, RBM33, RELN, REPIN1, RHBDD2, RNF216, RNF32, RP11-1220K2.2, RP11-514P8.7, RP9, RSBN1L, RSPH10B, RSPH10B2, SAMD9, SAMD9L, SCIN, SDK1, SEMA3A, SEMA3C, SEMA3D, SEMA3E, SFRP4, SGCE, SLC12A9, SLC13A4, SLC25A13, SLC26A3, SLC35B4, SLC37A3, SLC4A2, SMO, SMURF1, SND1, SNX13, SNX8, SP8, SPAM1, SPDYE1, SRCRB4D, SRRM3, SRRT, STAG3, STEAP1B, STEAP2, STEAP4, STK17A, STK31, STX1A, STYXL1, SUGCT, SUMF2, SUN1, SVOPL, TAS2R16, TAS2R3, TAS2R38, TAS2R4, TAS2R41, TAS2R5, TAS2R60, TBRG4, TBXAS1, TECPR1, TES, TFPI2, THSD7A, TMED4, TMEM106B, TMEM120A, TMEM130, TMEM140, TMEM176A, TMEM176B, TMEM178B, TMEM184A, TMEM209, TMEM213, TMEM229A, TMEM60, TNPO3, TNRC18, TNS3, TRBC2, TRBV19, TRBV2, TRBV20-1, TRBV4-1, TRBV4-2, TRBV5-4, TRBV5-5, TRBV5-6, TRBV6-5, TRBV6-7, TRBV6-8, TRBV7-4, TRBV7-6, TRGC1, TRGC2, TRGV3, TRGV4, TRGV5, TRGV9, TRIM4, TRIM50, TRIM74, TRIP6, TRRAP, TSGA13, TSPAN12, TSPAN13, TYW1, TYW1B, UBE3C, UFSP1, UPK3B, URGCP, USP42, VIPR2, VKORC1L1, VOPP1, VWC2, VWDE, WASL, WBSCR27, WBSCR28, WDR60, WDR86, WDR91, WEE2, WIPF3, WIPI2, ZAN, ZBED6CL, ZC3HAV1, ZC3HC1, ZNF107, ZNF117, ZNF138, ZNF212, ZNF273, ZNF282, ZNF3, ZNF398, ZNF425, ZNF479, ZNF680, ZNF713, ZNF736, ZNF746, ZNF775, ZNF777, ZNF853, ZNF862, ZP3,

Genes at Omim

ABCB1, ABCB4, ADAM22, ADCY1, AEBP1, AHR, AKAP9, ANLN, ARPC1B, ASB10, ASNS, ATP6V0A4, BLVRA, BMPER, BRAF, BRAT1, CALCR, CAMK2B, CARD11, CAV1, CDK13, CFTR, CLCN1, COG5, COL1A2, CUX1, DDC, DNAH11, DNAJB6, DPP6, EGFR, EPHB4, FAM126A, FLNC, GLCCI1, GLI3, GPNMB, GUSB, HOXA1, IKZF1, IL6, IQCE, IRF5, ISPD, KCNH2, KLHL7, KMT2C, LAMB1, LFNG, LMBR1, MAD1L1, MAGI2, MDH2, MET, NCF1, NME8, NOBOX, NOS3, NPC1L1, NPSR1, NT5C3A, NUP205, OGDH, PAX4, PCLO, PDE1C, PEX1, PKD1L1, PMPCB, PMS2, PON2, POR, POT1, POU6F2, PPP1R3A, PRSS1, PSPH, PTPN12, RELN, RNF216, RP9, SAMD9, SAMD9L, SEMA3A, SEMA3E, SFRP4, SGCE, SLC25A13, SLC26A3, STAG3, TAS2R16, TAS2R38, TBXAS1, TMEM106B, TNPO3, TSPAN12, WDR60, WEE2, 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)
ADAM22 ?Epileptic encephalopathy, early infantile, 61, 617933 (3)
ADCY1 ?Deafness, autosomal recessive 44, 610154 (3)
AEBP1 Ehlers-Danlos syndrome, classic-like, 2, 618000 (3)
AHR ?Retinitis pigmentosa 85, 618345 (3)
AKAP9 ?Long QT syndrome-11, 611820 (3)
ANLN Focal segmental glomerulosclerosis 8, 616032 (3)
ARPC1B Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, 617718 (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)
BRAF Adenocarcinoma of lung, somatic, 211980 (3)
Cardiofaciocutaneous syndrome, 115150 (3)
Colorectal cancer, somatic (3)
LEOPARD syndrome 3, 613707 (3)
Melanoma, malignant, somatic (3)
Nonsmall cell lung cancer, somatic (3)
Noonan syndrome 7, 613706 (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)
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)
FAM126A Leukodystrophy, hypomyelinating, 5, 610532 (3)
FLNC Cardiomyopathy, familial hypertrophic, 26 (3)
Cardiomyopathy, familial restrictive 5, 617047 (3)
Myopathy, distal, 4, 614065 (3)
Myopathy, myofibrillar, 5, 609524 (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)
IL6 {Intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to}, 108010 (3)
{Kaposi sarcoma, susceptibility to}, 148000 (3)
{Rheumatoid arthritis, systemic juvenile}, 604302 (3)
{Crohn disease-associated growth failure}, 266600 (3)
{Diabetes, susceptibility to}, 222100, 125853 (3)
IQCE ?Polydactyly, postaxial, type A7, 617642 (3)
IRF5 {Inflammatory bowel disease 14}, 612245 (3)
{Systemic lupus erythematosus, susceptibility to, 10}, 612251 (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)
LFNG Spondylocostal dysostosis 3, autosomal recessive, 609813 (3)
LMBR1 Acheiropody, 200500 (3)
Hypoplastic or aplastic tibia with polydactyly, 188740 (3)
Laurin-Sandrow syndrome, 135750 (3)
Polydactyly, preaxial type II, 174500 (3)
Syndactyly, type IV, 186200 (3)
Triphalangeal thumb, type I, 174500 (3)
Triphalangeal thumb-polysyndactyly syndrome, 174500 (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)
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)
PMPCB Multiple mitochondrial dysfunctions syndrome 6, 617954 (3)
PMS2 Colorectal cancer, hereditary nonpolyposis, type 4, 614337 (3)
Mismatch repair cancer syndrome, 276300 (3)
PON2 {Coronary artery disease, 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)
RNF216 Cerebellar ataxia and hypogonadotropic hypogonadism, 212840 (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)
SGCE Dystonia-11, myoclonic, 159900 (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)
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)
WEE2 Oocyte maturation defect 5, 617996 (3)
ZP3 Oocyte maturation defect 3, 617712 (3)

Genes at Clinical Genomics Database

ABCB1, ABCB4, ADCY1, AKAP9, ANLN, ASNS, ATP6V0A4, AUTS2, BBS9, BLVRA, BMPER, BRAF, BRAT1, CARD11, CAV1, CCM2, CFTR, CLCN1, COG5, COL1A2, DDC, DFNA5, DNAH11, DNAJB6, DPP6, EGFR, FAM126A, FLNC, GLI3, GUSB, HOXA1, IKZF1, ISPD, KCNH2, KLHL7, KRIT1, LAMB1, LFNG, LMBR1, MET, NCF1, NME8, NOBOX, NPC1L1, NT5C3A, NUP205, PAX4, PEX1, PMS2, POR, POT1, POU6F2, PPP1R3A, PRSS1, PSPH, RELN, RNF216, RP9, SAMD9, SEMA3A, SEMA3E, SGCE, SLC25A13, SLC26A3, STAG3, SUGCT, TAS2R38, TBXAS1, TNPO3, TRRAP, 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
ADCY1 Deafness, autosomal dominant 44
AKAP9 Long QT syndrome 11
ANLN Focal segmental glomerulosclerosis 8
ASNS Asparagine synthetase deficiency
ATP6V0A4 Renal tubular acidosis, distal, autosomal recessive
AUTS2 Mental retardation, autosomal dominant 26
BBS9 Bardet-Biedl syndrome 9
BLVRA Hyperbiliverdinemia
BMPER Diaphanospondylodysostosis
BRAF Noonan syndrome
Cardiofaciocutaneous syndrome
LEOPARD syndrome 3
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
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
FAM126A Leukodystrophy, hypomyelinating, 5
FLNC Myopathy, distal, 4
Myopathy, myofibrillar, 5
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
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
LFNG Spondylocostal dysostosis, autosomal recessive 3
LMBR1 Acheiropody
Syndactyly, type IV
Laurin-Sandrow syndrome
Triphalangeal thumb, type I
Polydactyly, preaxial type II
Triphalangeal thumb-polysyndactyly syndrome
Tibial aplasia/hypoplasia
Hypoplastic or aplastic tibia with polydactyly
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
PMS2 Colorectal cancer, hereditary nonpolyposis type 4
Mismatch repair cancer syndrome
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
RNF216 Cerebellar ataxia and hypogonadotropic hypogonadism (Gordon Holmes syndrome)
RP9 Retinitis pigmentosa 9
SAMD9 Tumoral calcinosis, normophosphatemic
SEMA3A Hypogonadotropic hypogonadism 16 with or without anosmia
SEMA3E CHARGE syndrome
SGCE Dystonia 11, myoclonic
SLC25A13 Citrin deficiency
SLC26A3 Diarrhea 1, secretory chloride, congenital
STAG3 Premature ovarian failure 8
SUGCT Glutaric aciduria III
TAS2R38 Thiourea tasting
Phenylthiocarbamide tasting
TBXAS1 Ghosal hematodiaphyseal syndrome
TNPO3 Muscular dystrophy, limb-girdle, type 1F
TRRAP Schizophrenia
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: 4762
Number of Genes: 470

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ABCA13

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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 4k20002_01 gatk 7 rs17712293
dbSNP Clinvar
48311563 1787.77 T G . 0/1 98 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.19449 0.19450 0.14847 0.06 None None None None None None ABCA13|0.04721773|63.52%
View 4k20002_01 gatk 7 rs1358066
dbSNP Clinvar
48312674 1495.77 G A . 0/1 91 SYNONYMOUS_CODING LOW SILENT 0.57528 0.57530 0.49452 None None None None None None ABCA13|0.04721773|63.52%
View 4k20002_01 gatk 7 rs1880736
dbSNP Clinvar
48315796 2570.77 C A . 1/1 70 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.81290 0.81290 0.30295 0.00 None None None None None None ABCA13|0.04721773|63.52%
View 4k20002_01 gatk 7 rs6955212
dbSNP Clinvar
48314279 836.77 G A . 0/1 54 SYNONYMOUS_CODING LOW SILENT 0.19329 0.19330 0.14548 None None None None None None ABCA13|0.04721773|63.52%
View 4k20002_01 gatk 7 rs17661364
dbSNP Clinvar
48315360 1474.77 A G . 0/1 89 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04633 0.04633 0.02780 0.05 None None None None None None ABCA13|0.04721773|63.52%
View 4k20002_01 gatk 7 rs6583448
dbSNP Clinvar
48545976 2490.77 A G . 1/1 83 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00000 1.00000 0.00 None None None None None None ABCA13|0.04721773|63.52%
View 4k20002_01 gatk 7 rs17548783
dbSNP Clinvar
48450157 1052.77 T C . 0/1 90 SYNONYMOUS_CODING LOW SILENT 0.46266 0.46270 0.46629 None None None None None None ABCA13|0.04721773|63.52%
View 4k20002_01 gatk 7 rs6583546
dbSNP Clinvar
48336844 3406.77 C T . 1/1 99 SYNONYMOUS_CODING LOW SILENT 0.76897 0.76900 0.35105 None None None None None None ABCA13|0.04721773|63.52%
View 4k20002_01 gatk 7 rs2222648
dbSNP Clinvar
48318811 2176.77 C T . 1/1 65 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.85224 0.85220 0.22580 0.00 None None None None None None ABCA13|0.04721773|63.52%
View 4k20002_01 gatk 7 rs566275204
dbSNP Clinvar
48273654 2468.77 A G . 0/1 151 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00020 0.00020 0.01 None None None None None None ABCA13|0.04721773|63.52%
View 4k20002_01 gatk 7 rs1880738
dbSNP Clinvar
48285485 981.77 C T . 0/1 79 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.40655 0.40650 0.35164 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 4k20002_01 gatk 7 rs2032582
dbSNP Clinvar
87160618 1077.77 A C . 0/1 80 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.04872 0.61700 0.32193 1.00 0.00 None None None None None None ABCB1|0.831468236|5.08%
View 4k20002_01 gatk 7 rs1128503
dbSNP Clinvar
87179601 1277.77 A G . 0/1 90 SYNONYMOUS_CODING LOW SILENT 0.58387 0.58390 0.35760 None None None None None None ABCB1|0.831468236|5.08%
View 4k20002_01 gatk 7 rs1045642
dbSNP Clinvar
87138645 1471.77 A G . 0/1 98 SYNONYMOUS_CODING LOW SILENT 0.60483 0.60480 0.42334 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 4k20002_01 gatk 7 rs1202283
dbSNP Clinvar
87082292 1089.77 G A . 0/1 79 SYNONYMOUS_CODING LOW SILENT 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 4k20002_01 gatk 7 rs2301641
dbSNP Clinvar
20698270 1597.77 A G . 0/1 116 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.36382 0.36380 0.39997 1.00 0.00 None None None None None None ABCB5|0.12579132|46.5%
View 4k20002_01 gatk 7 rs2074000
dbSNP Clinvar
20685484 1647.77 C A . 0/1 111 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.14317 0.14320 0.00641 0.00 0.85 None None None None None None ABCB5|0.12579132|46.5%
View 4k20002_01 gatk 7 rs6461515
dbSNP Clinvar
20778646 2530.77 G A . 0/1 153 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.75679 0.75680 0.22620 0.13 0.81 None None None None None None ABCB5|0.12579132|46.5%
View 4k20002_01 gatk 7 rs62453384
dbSNP Clinvar
20762646 2719.77 G T . 1/1 87 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.23223 0.23220 0.29909 0.00 0.57 None None None None None None ABCB5|0.12579132|46.5%
View 4k20002_01 gatk 7 rs10254317
dbSNP Clinvar
20768013 814.77 G A . 0/1 77 SYNONYMOUS_CODING LOW SILENT 0.59605 0.59600 0.47801 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 4k20002_01 gatk 7 rs2303926
dbSNP Clinvar
150733025 2273.77 T A . 1/1 72 SYNONYMOUS_CODING LOW SILENT 0.30052 0.30050 0.31816 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 4k20002_01 gatk 7 rs6464133
dbSNP Clinvar
150921950 3452.77 A G . 1/1 96 SYNONYMOUS_CODING LOW SILENT 0.73902 0.73900 0.28925 None None None None None None ABCF2|0.445512851|18.39%
View 4k20002_01 gatk 7 rs6949587
dbSNP Clinvar
150916228 3068.77 G A . 1/1 93 SYNONYMOUS_CODING LOW SILENT 0.41933 0.41930 0.34822 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 4k20002_01 gatk 7 rs185969484
dbSNP Clinvar
73152763 1469.77 G A . 0/1 99 SYNONYMOUS_CODING LOW SILENT 0.00599 0.00599 0.00031 None None None None None None ABHD11|0.015871051|76.55%
View 4k20002_01 gatk 7 rs6460052
dbSNP Clinvar
73151644 3110.77 A G . 1/1 100 SYNONYMOUS_CODING LOW SILENT 0.60463 0.60460 0.41458 None None None None None None ABHD11|0.015871051|76.55%

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 4k20002_01 gatk 7 rs2007015
dbSNP Clinvar
155755826 588.77 A G . 0/1 48 SYNONYMOUS_CODING LOW SILENT 0.70647 0.70650 None None None None None None None
View 4k20002_01 gatk 7 rs1551630
dbSNP Clinvar
155757502 2817.77 T C . 1/1 77 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.96965 0.96960 0.00 None None None None None None None

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 4k20002_01 gatk 7 rs28634863
dbSNP Clinvar
149983565 451.77 T C . 0/1 86 NON_SYNONYMOUS_CODING MODERATE MISSENSE 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 4k20002_01 gatk 7 rs3789240
dbSNP Clinvar
87813635 37.77 C T . 0/1 3 None None None 0.22065 0.22060 0.09 0.00 None None None None None None ADAM22|0.517774472|15.06%
View 4k20002_01 gatk 7 rs2279542
dbSNP Clinvar
87564497 938.77 C G . 0/1 62 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.63039 0.63040 0.36502 0.75 0.01 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 4k20002_01 gatk 7 rs10256887
dbSNP Clinvar
940181 557.77 C T . 0/1 56 NON_SYNONYMOUS_CODING MODERATE MISSENSE 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 4k20002_01 gatk 7 rs3808343
dbSNP Clinvar
960450 1962.77 C T . 1/1 60 None None None 0.03634 0.03634 None None None None None None ADAP1|0.029140217|69.81%,COX19|0.030938283|68.99%
View 4k20002_01 gatk 7 rs79805216
dbSNP Clinvar
995003 1319.77 G C . 0/1 114 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.05491 0.05491 0.26 0.00 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 4k20002_01 gatk 7 rs1042009
dbSNP Clinvar
45703971 460.77 G A . 0/1 47 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 4k20002_01 gatk 7 rs2537188
dbSNP Clinvar
44147485 469.77 C A . 0/1 49 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.35743 0.35740 0.36568 0.35 0.01 None None None None None None AEBP1|0.046717327|63.68%
View 4k20002_01 gatk 7 rs13928
dbSNP Clinvar
44153780 1150.77 A G . 0/1 76 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.36861 0.36860 0.45610 1.00 0.00 None None None None None None AEBP1|0.046717327|63.68%
View 4k20002_01 gatk 7 rs2595701
dbSNP Clinvar
44148553 4250.77 A G . 1/1 133 SYNONYMOUS_CODING LOW SILENT 0.78874 0.78870 0.25836 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 4k20002_01 gatk 7 rs6971966
dbSNP Clinvar
150812493 728.77 G C . 1/1 23 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 4k20002_01 gatk 7 rs4236655
dbSNP Clinvar
134701856 3898.77 G C . 1/1 118 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.91054 0.91050 0.06833 0.13 0.11 None None None None None None AGBL3|0.045265094|64.12%
View 4k20002_01 gatk 7 rs9656447
dbSNP Clinvar
134719551 2781.77 C G . 1/1 79 SYNONYMOUS_CODING LOW SILENT 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 4k20002_01 gatk 7 rs4719480
dbSNP Clinvar
16834551 4258.77 C A . 1/1 130 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 4k20002_01 gatk 7 rs6842
dbSNP Clinvar
16834597 1816.77 A G . 0/1 175 SYNONYMOUS_CODING LOW SILENT 0.33546 0.33550 0.38490 None None None None None None AGR2|0.129707594|45.92%

AHCYL2

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 4k20002_01 gatk 7 rs4731565
dbSNP Clinvar
128865130 72.77 C T . 0/1 5 SYNONYMOUS_CODING LOW SILENT 0.29952 0.29950 None None None None None None AHCYL2|0.59007871|12.12%

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 4k20002_01 gatk 7 rs2066853
dbSNP Clinvar
17379110 1372.77 G A . 0/1 111 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.27077 0.27080 0.21736 1.00 0.00 None None None None None None AHR|0.22557491|33.82%

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 4k20002_01 gatk 7 rs1989779
dbSNP Clinvar
91632306 2509.77 C T . 1/1 71 SYNONYMOUS_CODING LOW SILENT 0.93590 0.93590 0.09365 None None None None None None AKAP9|0.267262044|30.07%
View 4k20002_01 gatk 7 rs1063242
dbSNP Clinvar
91714911 3382.77 C T . 1/1 99 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99880 0.99880 0.00261 1.00 0.00 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 4k20002_01 gatk 7 rs1722883
dbSNP Clinvar
134215403 1269.77 T C . 0/1 93 SYNONYMOUS_CODING LOW SILENT 0.53315 0.53310 0.44526 None None None None None None AKR1B10|0.014962544|77.15%
View 4k20002_01 gatk 7 rs4728329
dbSNP Clinvar
134225827 4021.77 A G . 1/1 127 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.96945 0.96940 0.06343 0.20 0.00 None None None None None None AKR1B10|0.014962544|77.15%

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 4k20002_01 gatk 7 rs1058656
dbSNP Clinvar
38431436 1400.77 C T . 0/1 95 SYNONYMOUS_CODING LOW SILENT 0.17891 0.17890 0.21590 None None None None None None AMPH|0.168231418|40.54%
View 4k20002_01 gatk 7 rs1058655
dbSNP Clinvar
38431481 1488.77 C A . 0/1 101 SYNONYMOUS_CODING LOW SILENT 0.13239 0.13240 0.16223 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 4k20002_01 gatk 7 rs59438885
dbSNP Clinvar
2748758 417.77 G C . 0/1 42 SYNONYMOUS_CODING LOW SILENT 0.00300 0.00300 0.14070 None None None None None None AMZ1|0.018288269|75.12%
View 4k20002_01 gatk 7 rs7776970
dbSNP Clinvar
2752487 2451.77 G A . 1/1 73 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.32149 0.32150 0.37199 0.62 0.00 None None None None None None AMZ1|0.018288269|75.12%
View 4k20002_01 gatk 7 rs58726146
dbSNP Clinvar
2748803 452.77 C T . 0/1 36 SYNONYMOUS_CODING LOW SILENT 0.28974 0.28970 0.18101 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 4k20002_01 gatk 7 rs1861635
dbSNP Clinvar
92027537 1376.77 C G . 1/1 45 SYNONYMOUS_CODING LOW SILENT 0.15475 0.15480 0.08448 None None None None None None ANKIB1|0.445469557|18.4%

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 4k20002_01 gatk 7 rs17136349
dbSNP Clinvar
6075721 867.77 C T . 0/1 71 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.01358 0.01358 0.00 0.96 None None None None None None EIF2AK1|0.036895941|66.83%,ANKRD61|0.004895373|85.92%
View 4k20002_01 gatk 7 rs12334093
dbSNP Clinvar
6071115 1477.77 A G . 0/1 136 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.11462 0.11460 0.10 0.00 None None None None None None EIF2AK1|0.036895941|66.83%,ANKRD61|0.004895373|85.92%

ANKRD7

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 4k20002_01 gatk 7 rs10487391
dbSNP Clinvar
117865028 890.77 G A . 0/1 76 SYNONYMOUS_CODING LOW SILENT 0.00919 0.03155 None None None None None None ANKRD7|0.005530332|85.18%

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 4k20002_01 gatk 7 . 36447349 430.73 A ACTT . 0/1 24 CODON_INSERTION MODERATE 0.44948 0.38393 None None None None None None ANLN|0.180116375|39.04%
View 4k20002_01 gatk 7 rs197367
dbSNP Clinvar
36445856 1034.77 G A . 0/1 95 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.62061 0.62060 0.46094 1.00 0.00 None None None None None None ANLN|0.180116375|39.04%
View 4k20002_01 gatk 7 rs117705799
dbSNP Clinvar
36489329 919.77 C T . 0/1 88 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00120 0.00120 0.32 0.02 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 4k20002_01 gatk 7 rs57543920
dbSNP Clinvar
36552790 2729.73 G GT . 1/1 78 FRAME_SHIFT HIGH 0.87740 0.87740 None None None None None None AOAH|0.05743156|60.58%
View 4k20002_01 gatk 7 rs59476355
dbSNP Clinvar
36552729 1707.73 A AT . 1/1 52 FRAME_SHIFT HIGH 0.99980 0.99980 None None None None None None AOAH|0.05743156|60.58%
View 4k20002_01 gatk 7 rs3735387
dbSNP Clinvar
36656001 569.77 C T . 0/1 56 SYNONYMOUS_CODING LOW SILENT 0.04493 0.04493 0.00554 None None None None None None AOAH|0.05743156|60.58%
View 4k20002_01 gatk 7 rs3735385
dbSNP Clinvar
36657940 934.77 T A . 0/1 80 SYNONYMOUS_CODING LOW SILENT 0.05491 0.05491 0.00792 None None None None None None AOAH|0.05743156|60.58%
View 4k20002_01 gatk 7 rs3735384
dbSNP Clinvar
36671667 722.77 C T . 0/1 63 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00859 0.00859 0.00015 0.29 0.55 None None None None None None AOAH|0.05743156|60.58%
View 4k20002_01 gatk 7 rs2228411
dbSNP Clinvar
36763688 2335.77 C T . 1/1 71 SYNONYMOUS_CODING LOW SILENT 0.37820 0.37820 0.41143 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 4k20002_01 gatk 7 rs12179
dbSNP Clinvar
150557622 3706.77 G A . 1/1 104 SYNONYMOUS_CODING LOW SILENT 0.45328 0.45330 0.35954 None None None None None None AOC1|0.017990966|75.29%
View 4k20002_01 gatk 7 rs1049793
dbSNP Clinvar
150557665 3683.77 C G . 1/1 104 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.45328 0.45330 0.35484 1.00 0.00 None None None None None None AOC1|0.017990966|75.29%
View 4k20002_01 gatk 7 rs6943147
dbSNP Clinvar
150556055 2931.77 C G . 1/1 66 NON_SYNONYMOUS_CODING MODERATE MISSENSE 1.00000 1.00000 0.08 0.00 None None None None None None AOC1|0.017990966|75.29%
View 4k20002_01 gatk 7 rs10893
dbSNP Clinvar
150555915 2271.77 A G . 1/1 69 SYNONYMOUS_CODING LOW SILENT 0.45907 0.45910 0.35710 None None None None None None AOC1|0.017990966|75.29%
View 4k20002_01 gatk 7 rs2071514
dbSNP Clinvar
150554887 842.77 G A . 0/1 60 SYNONYMOUS_CODING LOW SILENT 0.30032 0.30030 0.18654 None None None None None None AOC1|0.017990966|75.29%
View 4k20002_01 gatk 7 rs1049748
dbSNP Clinvar
150556002 743.77 T C . 0/1 49 SYNONYMOUS_CODING LOW SILENT 0.51578 0.51580 0.44399 None None None None None None AOC1|0.017990966|75.29%
View 4k20002_01 gatk 7 rs10156191
dbSNP Clinvar
150553605 5829.77 C T . 1/1 188 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.31290 0.31290 0.34375 0.32 0.00 None None None None None None AOC1|0.017990966|75.29%
View 4k20002_01 gatk 7 rs6943420
dbSNP Clinvar
150556056 2931.77 G C . 1/1 66 SYNONYMOUS_CODING LOW SILENT 1.00000 1.00000 None None None None None None AOC1|0.017990966|75.29%

ARHGEF5

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 4k20002_01 gatk 7 . 144059918 193.77 G A . 0/1 64 SYNONYMOUS_CODING LOW SILENT None None None None None None ARHGEF5|0.018074391|75.24%

ARMC10

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 4k20002_01 gatk 7 rs7798381
dbSNP Clinvar
102715804 531.77 C T . 0/1 49 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.07348 0.07348 0.12 0.53 None None None None None None ARMC10|0.030367771|69.22%

ARPC1B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 4k20002_01 gatk 7 rs117071116
dbSNP Clinvar
98988663 1223.77 C T . 0/1 99 SYNONYMOUS_CODING LOW SILENT 0.00160 0.00160 0.00015 None None None None None None ARPC1B|0.143899892|43.88%

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 4k20002_01 gatk 7 rs552803353
dbSNP Clinvar
150884602 1087.77 T C . 0/1 80 None None None 0.00200 0.00200 0.08 0.53 None None None None None None ASB10|0.051312988|62.24%
View 4k20002_01 gatk 7 rs77615410
dbSNP Clinvar
150883593 729.77 G A . 0/1 46 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.06569 0.06569 0.01448 0.17 0.02 None None None None None None ASB10|0.051312988|62.24%
View 4k20002_01 gatk 7 rs2253592
dbSNP Clinvar
150878260 1417.77 C G . 0/1 82 SYNONYMOUS_CODING LOW SILENT 0.50379 0.50380 0.48337 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 4k20002_01 gatk 7 rs6962756
dbSNP Clinvar
123256427 736.77 C T . 0/1 62 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.77935 0.77940 0.21463 0.71 0.00 None None None None None None ASB15|0.249466416|31.55%
View 4k20002_01 gatk 7 rs11769381
dbSNP Clinvar
123264804 1191.77 C T . 0/1 93 SYNONYMOUS_CODING LOW SILENT 0.46965 0.46960 0.40997 None None None None None None ASB15|0.249466416|31.55%
View 4k20002_01 gatk 7 rs4731112
dbSNP Clinvar
123269118 1123.77 G C . 0/1 84 NON_SYNONYMOUS_CODING MODERATE MISSENSE 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 4k20002_01 gatk 7 rs1049674
dbSNP Clinvar
97488569 1206.77 A T . 0/1 82 NON_SYNONYMOUS_CODING MODERATE MISSENSE 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 4k20002_01 gatk 7 rs1029396
dbSNP Clinvar
117024820 625.77 T G . 0/1 67 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.22424 0.22420 0.07543 0.00 0.11 None None None None None None ASZ1|0.141301236|44.23%

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 4k20002_01 gatk 7 rs7804893
dbSNP Clinvar
150715947 1430.77 T C . 1/1 39 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.16973 0.16970 0.00 1.00 None None None None None None ATG9B|0.090467592|53.12%
View 4k20002_01 gatk 7 rs1835428
dbSNP Clinvar
150715817 1503.77 A G . 1/1 46 SYNONYMOUS_CODING LOW SILENT 0.82069 0.82070 0.18169 None None None None None None ATG9B|0.090467592|53.12%
View 4k20002_01 gatk 7 rs11393607,rs77573754
dbSNP Clinvar
150713902 3263.73 G GC . 1/1 89 FRAME_SHIFT HIGH 1.00000 1.00000 0.00099 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 4k20002_01 gatk 7 rs10258719
dbSNP Clinvar
138455988 3134.77 A G . 1/1 94 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.67951 0.67950 0.26780 0.19 0.00 None None None None None None ATP6V0A4|0.084008171|54.41%
View 4k20002_01 gatk 7 rs777210633
dbSNP Clinvar
138429880 994.77 T C . 0/1 84 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.39 0.06 None None None None None None ATP6V0A4|0.084008171|54.41%
View 4k20002_01 gatk 7 rs3807154
dbSNP Clinvar
138417718 1694.77 A G . 0/1 112 SYNONYMOUS_CODING LOW SILENT 0.67752 0.67750 0.36691 None None None None None None ATP6V0A4|0.084008171|54.41%
View 4k20002_01 gatk 7 rs1026435
dbSNP Clinvar
138418910 1434.77 G A . 0/1 103 SYNONYMOUS_CODING LOW SILENT 0.71665 0.71670 0.31678 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 4k20002_01 gatk 7 rs112994393
dbSNP Clinvar
128503072 1200.77 G T . 0/1 104 SYNONYMOUS_CODING LOW SILENT 0.02316 0.02316 0.00123 None None None None None None ATP6V1F|0.245384334|31.98%

AUTS2

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 4k20002_01 gatk 7 rs538005366
dbSNP Clinvar
70255576 1808.77 G GC... . 0/1 116 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None None None None None None AUTS2|0.998368801|0.51%
View 4k20002_01 gatk 7 rs2293507
dbSNP Clinvar
70228020 706.77 G T . 0/1 64 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.08606 0.08606 0.07843 0.39 0.00 None None None None None None AUTS2|0.998368801|0.51%
View 4k20002_01 gatk 7 rs2293508
dbSNP Clinvar
70228139 512.77 A G . 0/1 44 SYNONYMOUS_CODING LOW SILENT 0.10903 0.10900 0.10080 None None None None None None AUTS2|0.998368801|0.51%

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 4k20002_01 gatk 7 rs1993050
dbSNP Clinvar
32613020 2556.77 A G . 1/1 79 SYNONYMOUS_CODING LOW SILENT 0.56869 0.56870 0.41635 None None None None None None AVL9|0.207787031|35.83%
View 4k20002_01 gatk 7 rs371255356
dbSNP Clinvar
32612818 1576.77 A C . 0/1 109 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00020 0.00020 0.00008 0.14 0.58 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 4k20002_01 gatk 7 rs4215
dbSNP Clinvar
99569394 693.77 G A . 0/1 59 SYNONYMOUS_CODING LOW SILENT 0.37440 0.37440 0.30471 None None None None None None AZGP1|0.002916954|88.79%

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 4k20002_01 gatk 7 rs2074754
dbSNP Clinvar
72891754 798.77 C T . 0/1 53 SYNONYMOUS_CODING LOW SILENT 0.34764 0.34760 0.35192 None None None None None None BAZ1B|0.356018071|23.74%