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Genes:
ABCA13, ABCB1, ABCB4, ABCB5, ABCB8, ABCF2, AC005008.2, AC008060.7, AC011294.3, AC021218.2, AC073343.1, AC091801.1, AC099552.4, AC110781.3, ACHE, ACN9, ADAP1, ADCK2, AEBP1, AGBL3, AGFG2, AGR2, AHR, AKAP9, AKR1B10, AMPH, AMZ1, ANKIB1, ANKMY2, ANKRD7, ANLN, AOAH, AOC1, AP5Z1, ARF5, ARPC1B, ASB10, ASB15, ASB4, ATG9B, ATP5J2-PTCD1, ATP6V0A4, ATP6V0E2, BBS9, BCAP29, BET1, BLVRA, BMPER, BPGM, BRAT1, BUD31, C7orf13, C7orf26, C7orf31, C7orf33, C7orf34, C7orf57, C7orf62, C7orf63, C7orf71, C7orf72, CADPS2, CALCR, CALD1, CAMK2B, CAPZA2, CARD11, CAV1, CAV2, CCDC129, CCDC132, CCDC136, CCDC146, CCL24, CCM2, CCT6A, CCZ1, CDHR3, CFTR, CHPF2, CLCN1, CLEC5A, CLIP2, CNOT4, CNPY4, CNTNAP2, COBL, COG5, COL1A2, COL26A1, COL28A1, CPA4, CPED1, CPSF4, CPVL, CREB3L2, CUX1, CYP2W1, CYP3A4, CYP3A43, CYP3A7, CYTH3, DAGLB, DBNL, DDC, DDX56, DENND2A, DFNA5, DGKB, DGKI, DLD, DMTF1, DNAH11, DNAJB6, DNAJB9, DNAJC30, DPP6, DTX2, EEPD1, EGFR, EIF2AK1, ELFN1, EN2, EPDR1, EPHA1, EPHB4, EPHB6, ERV3-1, ESYT2, ETV1, EXOC4, FAM115C, FAM126A, FAM185A, FAM188B, FAM200A, FAM20C, FAM71F1, FASTK, FBXL13, FBXL18, FBXO24, FLNC, FOXK1, FSCN3, FTSJ2, GAL3ST4, GALNTL5, GCC1, GET4, GHRHR, GIGYF1, GIMAP2, GIMAP5, GIMAP6, GIMAP7, GLCCI1, GLI3, GNA12, GPC2, GPER1, GPNMB, GPR37, GPR85, GRB10, GRID2IP, GSAP, GTF2IRD1, GTPBP10, HDAC9, HEATR2, HECW1, HGF, HIPK2, HOXA1, HOXA4, HOXA6, HOXA7, HUS1, ICA1, IFRD1, IGF2BP3, IGFBP1, IGFBP3, IKZF1, IMPDH1, ING3, INMT, INTS1, IQCE, IRF5, ITGB8, KCNH2, KDELR2, KDM7A, KEL, KIAA0087, KIAA1324L, KIAA1549, KLF14, KLHL7, KLRG2, KMT2C, KRBA1, LAMB1, LAMB4, LAMTOR4, LANCL2, LMTK2, LRCH4, LRGUK, LRRC17, LRRC4, LRRD1, LRRN3, LSM5, MACC1, MAD1L1, MAGI2, MALSU1, MBLAC1, MDFIC, MDH2, MET, METTL2B, MGAM, MICALL2, MIOS, MKLN1, MKRN1, MLXIPL, MOGAT3, MPP6, MUC12, MUC17, MUC3A, MYL7, MYO1G, NACAD, NAMPT, NAPEPLD, NCF1, NFE2L3, NME8, NOBOX, NOD1, NOM1, NOS3, NPC1L1, NPSR1, NPVF, NRCAM, NRF1, NT5C3A, NUB1, NUP205, NUPL2, NYAP1, OGDH, OR2A1, OR2A12, OR2A14, OR2A2, OR2A25, OR2A5, OR2AE1, OR2F1, OR6B1, OR6V1, OR9A2, OR9A4, OSBPL3, PARP12, PAX4, PAXIP1, PCLO, PDE1C, PDGFA, PDIA4, PDK4, PEX1, PGAM2, PHF14, PIK3CG, PILRA, PKD1L1, PLXNA4, PMS2, PODXL, POLM, POLR2J3, POM121L12, POMZP3, PON1, POR, POT1, POU6F2, PP13004, PPP1R3A, PPP1R9A, PRKAR1B, PRKAR2B, PRKRIP1, PRR15, PRRT4, PRSS1, PRSS37, PRSS58, PSPH, PTPN12, PTPRN2, PTPRZ1, PVRIG, RAB19, RADIL, RAPGEF5, RARRES2, RBM28, RBM33, RBM48, RELN, REPIN1, RHBDD2, RNF216, RNF32, RP11-1220K2.2, RSPH10B, RSPH10B2, SAMD9, SAMD9L, SCIN, SDK1, SEMA3A, SEMA3C, SEMA3D, SEMA3E, SFRP4, SH2B2, SHH, SLC12A9, SLC13A1, SLC13A4, SLC26A3, SLC29A4, SLC37A3, SLC4A2, SMO, SND1, SNX13, SNX8, SRCRB4D, SRRT, SSMEM1, ST7-OT4, STAG3, STEAP1B, STEAP2, STEAP4, STK17A, STK31, STRIP2, STX1A, STYXL1, SUGCT, SUMF2, SUN1, SVOPL, SYPL1, TAF6, TAS2R16, TAS2R38, TAS2R4, TAS2R5, TAX1BP1, TBRG4, TBX20, TBXAS1, TECPR1, TFEC, TFPI2, THSD7A, TMEM120A, TMEM140, TMEM176A, TMEM178B, TMEM184A, TMEM209, TMEM213, TMEM60, TNPO3, TNRC18, TNS3, TPK1, TRBC2, TRBV10-1, TRBV10-2, TRBV11-1, TRBV19, TRBV2, 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, TRBV7-3, TRBV7-4, TRBV7-6, TRBV7-7, TRBV7-8, TRGC1, TRGC2, TRGJ1, TRGV10, TRGV11, TRGV2, TRGV3, TRGV4, TRGV9, TRIM24, TRIM4, TRIM56, TRIP6, TRPV5, TRPV6, TRRAP, TSPAN12, TSPAN13, TYW1B, UBE3C, UFSP1, UPK3B, URGCP, USP42, VIPR2, VOPP1, VPS41, VWDE, WBSCR16, WBSCR27, WBSCR28, WDR60, WDR86, WDR91, WEE2, WNT16, YAE1D1, ZAN, ZBED6CL, ZC3HAV1, ZC3HC1, ZNF107, ZNF117, ZNF138, ZNF212, ZNF273, ZNF394, ZNF425, ZNF467, ZNF655, ZNF679, ZNF680, ZNF727, ZNF736, ZNF775, ZNF777, ZNF783, ZNF789, ZNF804B, ZNF853, ZNF862, ZNF92, ZNHIT1, ZP3, ZSCAN25, ZYX,

Genes at Omim

ABCB1, ABCB4, ACHE, AEBP1, AHR, AKAP9, ANLN, AP5Z1, ARPC1B, ASB10, ATP6V0A4, BLVRA, BMPER, BPGM, BRAT1, CALCR, CAMK2B, CARD11, CAV1, CFTR, CLCN1, CNTNAP2, COG5, COL1A2, CUX1, DDC, DLD, DNAH11, DNAJB6, DPP6, EGFR, EPHB4, FAM126A, FAM20C, FLNC, GHRHR, GLCCI1, GLI3, GPNMB, HGF, HOXA1, IKZF1, IMPDH1, IQCE, IRF5, KCNH2, KEL, KLHL7, KMT2C, LAMB1, MAD1L1, MAGI2, MDH2, MET, NCF1, NME8, NOBOX, NOS3, NPC1L1, NPSR1, NT5C3A, NUP205, OGDH, PAX4, PCLO, PDE1C, PEX1, PGAM2, PKD1L1, PMS2, PON1, POR, POT1, POU6F2, PPP1R3A, PRSS1, PSPH, PTPN12, RBM28, RELN, RNF216, SAMD9, SAMD9L, SEMA3A, SEMA3E, SFRP4, SHH, SLC26A3, STAG3, TAF6, TAS2R16, TAS2R38, TBX20, TBXAS1, TNPO3, TPK1, TRPV6, 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)
ACHE [Blood group, Yt system], 112100 (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)
AP5Z1 Spastic paraplegia 48, autosomal recessive, 613647 (3)
ARPC1B Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, 617718 (3)
ASB10 Glaucoma 1, open angle, F, 603383 (3)
ATP6V0A4 Renal tubular acidosis, distal, autosomal recessive, 602722 (3)
BLVRA Hyperbiliverdinemia, 614156 (3)
BMPER Diaphanospondylodysostosis, 608022 (3)
BPGM Erythrocytosis, familial, 8, 222800 (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)
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)
DLD Dihydrolipoamide dehydrogenase deficiency, 246900 (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)
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)
GHRHR Growth hormone deficiency, isolated, type IV, 618157 (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)
HGF Deafness, autosomal recessive 39, 608265 (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)
IRF5 {Inflammatory bowel disease 14}, 612245 (3)
{Systemic lupus erythematosus, susceptibility to, 10}, 612251 (3)
KCNH2 {Long QT syndrome 2, acquired, susceptibility to}, 613688 (3)
Long QT syndrome 2, 613688 (3)
Short QT syndrome 1, 609620 (3)
KEL [Blood group, Kell], 110900 (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)
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)
PGAM2 Glycogen storage disease X, 261670 (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)
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)
RBM28 ?Alopecia, neurologic defects, and endocrinopathy syndrome, 612079 (3)
RELN Lissencephaly 2 (Norman-Roberts type), 257320 (3)
{Epilepsy, familial temporal lobe, 7}, 616436 (3)
RNF216 Cerebellar ataxia and hypogonadotropic hypogonadism, 212840 (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)
SHH Holoprosencephaly 3, 142945 (3)
Microphthalmia with coloboma 5, 611638 (3)
Schizencephaly, 269160 (3)
Single median maxillary central incisor, 147250 (3)
SLC26A3 Diarrhea 1, secretory chloride, congenital, 214700 (3)
STAG3 Premature ovarian failure 8, 615723 (3)
TAF6 Alazami-Yuan syndrome, 617126 (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)
TNPO3 Muscular dystrophy, limb-girdle, autosomal dominant 2, 608423 (3)
TPK1 Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458 (3)
TRPV6 Hyperparathyroidism, transient neonatal, 618188 (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, ACHE, AKAP9, ANLN, AP5Z1, ATP6V0A4, BBS9, BLVRA, BMPER, BPGM, BRAT1, CARD11, CAV1, CCM2, CFTR, CLCN1, CNTNAP2, COG5, COL1A2, CYP3A4, DDC, DFNA5, DLD, DNAH11, DNAJB6, DPP6, EGFR, FAM126A, FAM20C, FLNC, GHRHR, GLI3, HGF, HOXA1, IKZF1, IMPDH1, KCNH2, KEL, KLHL7, LAMB1, MET, NCF1, NME8, NOBOX, NPC1L1, NT5C3A, NUP205, PAX4, PEX1, PGAM2, PMS2, PON1, POR, POT1, POU6F2, PPP1R3A, PRSS1, PSPH, RBM28, RELN, RNF216, SAMD9, SEMA3A, SEMA3E, SHH, SLC26A3, STAG3, SUGCT, TAS2R38, TBX20, TBXAS1, TNPO3, TPK1, 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
ACHE Blood group, Yt system
AKAP9 Long QT syndrome 11
ANLN Focal segmental glomerulosclerosis 8
AP5Z1 Spastic paraplegia 48, autosomal recessive
ATP6V0A4 Renal tubular acidosis, distal, autosomal recessive
BBS9 Bardet-Biedl syndrome 9
BLVRA Hyperbiliverdinemia
BMPER Diaphanospondylodysostosis
BPGM Bisphosphoglycerate mutase deficiency
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
CYP3A4 Drug metabolism, CYP3A4-related
DDC Aromatic l-amino acid decarboxylase deficiency
DFNA5 Deafness, autosomal dominant 5
DLD Dihydrolipoyl dehydrogenase deficiency
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
FAM20C Hypophosphatemia,hyperphosphaturia, dental anomalies, intracerebral calcifications and osteosclerosis (Raine syndrome)
FLNC Myopathy, distal, 4
Myopathy, myofibrillar, 5
GHRHR Isolated growth hormone deficiency, type 1B
GLI3 Acrocallosal syndrome
Pallister-Hall syndrome
Grieg cephalopolysndactyly syndrome
Postaxial polydactyly type A1
Polydactyly, preaxial, type IV
Polydactyly, postaxial, types A1 and B
HGF Deafness, autosomal recessive 39
HOXA1 Athabaskan brainstem dysgenesis syndrome
Bosley-Salih-Alorainy syndrome
IKZF1 Immunodeficiency, common variable, 13
IMPDH1 Retinitis pigmentosa 10
Leber congenital amaurosis 11
KCNH2 Long QT syndrome 2
Short QT syndrome 1
KEL Blood group, Kell system
KLHL7 Retinitis pigmentosa 42
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
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
PGAM2 Glycogen storage disease X
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
RBM28 Alopecia, neurologic defects, and endocrinopathy syndrome
RELN Epilepsy, familial temporal lobe, 7
Lissencephaly 2
RNF216 Cerebellar ataxia and hypogonadotropic hypogonadism (Gordon Holmes syndrome)
SAMD9 Tumoral calcinosis, normophosphatemic
SEMA3A Hypogonadotropic hypogonadism 16 with or without anosmia
SEMA3E CHARGE syndrome
SHH Holoprosencephaly 3
Microphthalmia with coloboma 5
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
TPK1 Thiamine metabolism dysfunction syndrome 5
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: 3069
Number of Genes: 485

Export to: CSV

ABCA13

Omim - GeneCards - NCBI
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View 33011510240923_annotated 7 rs17132196
dbSNP Clinvar
48314330 4360.77 A G PASS 0/1 297 SYNONYMOUS_CODING LOW None 0.01258 0.01258 0.01421 None None None None None None ABCA13|0.04721773|63.52%
View 33011510240923_annotated 7 rs17132197
dbSNP Clinvar
48314929 535.77 T A PASS 0/1 70 NON_SYNONYMOUS_CODING MODERATE None 0.01258 0.01258 0.01394 0.03 None None None None None None ABCA13|0.04721773|63.52%
View 33011510240923_annotated 7 rs17132208
dbSNP Clinvar
48318400 1664.77 T G PASS 0/1 119 NON_SYNONYMOUS_CODING MODERATE None 0.01258 0.01258 0.01406 0.00 None None None None None None ABCA13|0.04721773|63.52%
View 33011510240923_annotated 7 rs114418661
dbSNP Clinvar
48318441 834.77 C T PASS 0/1 69 SYNONYMOUS_CODING LOW None 0.00779 0.00779 0.00727 None None None None None None ABCA13|0.04721773|63.52%
View 33011510240923_annotated 7 rs2222648
dbSNP Clinvar
48318811 478.77 C T PASS 0/1 58 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 33011510240923_annotated 7 rs113190350
dbSNP Clinvar
48319403 656.77 A C PASS 0/1 59 NON_SYNONYMOUS_CODING MODERATE None 0.01258 0.01258 0.01410 0.00 None None None None None None ABCA13|0.04721773|63.52%
View 33011510240923_annotated 7 rs6583546
dbSNP Clinvar
48336844 5507.77 C T PASS 1/1 186 SYNONYMOUS_CODING LOW None 0.76897 0.76900 0.35105 None None None None None None ABCA13|0.04721773|63.52%
View 33011510240923_annotated 7 rs112606040
dbSNP Clinvar
48352698 1205.77 A G PASS 0/1 108 NON_SYNONYMOUS_CODING MODERATE None 0.02256 0.02256 0.02181 0.00 None None None None None None ABCA13|0.04721773|63.52%
View 33011510240923_annotated 7 rs6583448
dbSNP Clinvar
48545976 7084.77 A G PASS 1/1 234 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.00 None None None None None None ABCA13|0.04721773|63.52%
View 33011510240923_annotated 7 rs62447309
dbSNP Clinvar
48559666 791.77 G A PASS 0/1 79 SYNONYMOUS_CODING LOW None 0.08586 0.08586 0.07670 None None None None None None ABCA13|0.04721773|63.52%
View 33011510240923_annotated 7 rs61378229
dbSNP Clinvar
48559696 1732.77 T C PASS 0/1 150 SYNONYMOUS_CODING LOW None 0.08586 0.08586 0.07686 None None None None None None ABCA13|0.04721773|63.52%
View 33011510240923_annotated 7 rs61705907
dbSNP Clinvar
48563913 2721.77 A G PASS 0/1 219 SYNONYMOUS_CODING LOW None 0.08526 0.08526 0.08651 None None None None None None ABCA13|0.04721773|63.52%
View 33011510240923_annotated 7 rs75846399
dbSNP Clinvar
48313256 596.77 A G PASS 0/1 54 NON_SYNONYMOUS_CODING MODERATE None 0.01278 0.01278 0.01406 0.01 None None None None None None ABCA13|0.04721773|63.52%
View 33011510240923_annotated 7 rs73697120
dbSNP Clinvar
48313155 727.77 A G PASS 0/1 40 NON_SYNONYMOUS_CODING MODERATE None 0.05132 0.05132 0.04212 0.00 None None None None None None ABCA13|0.04721773|63.52%
View 33011510240923_annotated 7 rs73697119
dbSNP Clinvar
48313091 1043.77 A C PASS 0/1 109 SYNONYMOUS_CODING LOW None 0.05132 0.05132 0.04168 None None None None None None ABCA13|0.04721773|63.52%
View 33011510240923_annotated 7 rs17092911
dbSNP Clinvar
48315724 319.77 C T PASS 0/1 38 NON_SYNONYMOUS_CODING MODERATE None 0.01258 0.01258 0.01389 0.01 None None None None None None ABCA13|0.04721773|63.52%
View 33011510240923_annotated 7 rs1880736
dbSNP Clinvar
48315796 696.77 C A PASS 1/1 25 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 33011510240923_annotated 7 rs1358066
dbSNP Clinvar
48312674 1688.77 G A PASS 0/1 122 SYNONYMOUS_CODING LOW None 0.57528 0.57530 0.49452 None None None None None None ABCA13|0.04721773|63.52%
View 33011510240923_annotated 7 rs17132198
dbSNP Clinvar
48315898 298.77 T C PASS 0/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.01258 0.01258 0.01329 0.00 None None None None None None ABCA13|0.04721773|63.52%
View 33011510240923_annotated 7 rs17132201
dbSNP Clinvar
48316055 458.77 A G PASS 0/1 52 SYNONYMOUS_CODING LOW None 0.01278 0.01278 0.01380 None None None None None None ABCA13|0.04721773|63.52%
View 33011510240923_annotated 7 rs116705389
dbSNP Clinvar
48312490 728.77 G A PASS 0/1 86 NON_SYNONYMOUS_CODING MODERATE None 0.01258 0.01258 0.01390 0.03 None None None None None None ABCA13|0.04721773|63.52%
View 33011510240923_annotated 7 rs73697118
dbSNP Clinvar
48312027 1332.77 G A PASS 0/1 148 NON_SYNONYMOUS_CODING MODERATE None 0.03435 0.03435 0.03116 0.01 None None None None None None ABCA13|0.04721773|63.52%
View 33011510240923_annotated 7 rs116299940
dbSNP Clinvar
48311602 710.77 G A PASS 0/1 100 NON_SYNONYMOUS_CODING MODERATE None 0.01258 0.01258 0.01364 0.01 None None None None None None ABCA13|0.04721773|63.52%
View 33011510240923_annotated 7 rs113452211
dbSNP Clinvar
48285167 540.77 A G PASS 0/1 55 SYNONYMOUS_CODING LOW None 0.01278 0.01278 0.01423 None None None None None None ABCA13|0.04721773|63.52%
View 33011510240923_annotated 7 rs111564118
dbSNP Clinvar
48317836 113.77 G A PASS 0/1 29 NON_SYNONYMOUS_CODING MODERATE None 0.01258 0.01258 0.01394 0.01 None None None None None None ABCA13|0.04721773|63.52%
View 33011510240923_annotated 7 rs17132206
dbSNP Clinvar
48318098 1795.77 A G PASS 0/1 120 NON_SYNONYMOUS_CODING MODERATE None 0.01238 0.01238 0.01401 0.01 None None None None None None ABCA13|0.04721773|63.52%
View 33011510240923_annotated 7 rs17132152
dbSNP Clinvar
48266876 1522.77 C A PASS 0/1 136 SYNONYMOUS_CODING LOW None 0.01278 0.01278 0.01445 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 33011510240923_annotated 7 rs2032582
dbSNP Clinvar
87160618 1983.77 A C PASS 1/1 66 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 33011510240923_annotated 7 rs1045642
dbSNP Clinvar
87138645 3508.77 A G PASS 1/1 120 SYNONYMOUS_CODING LOW None 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 33011510240923_annotated 7 rs2230028
dbSNP Clinvar
87056176 1324.77 T C PASS 0/1 105 NON_SYNONYMOUS_CODING MODERATE None 0.17033 0.17030 0.16854 0.42 0.00 None None None None None None ABCB4|0.238504845|32.55%
View 33011510240923_annotated 7 rs2302387
dbSNP Clinvar
87092185 2109.77 G A PASS 0/1 173 SYNONYMOUS_CODING LOW None 0.25240 0.25240 0.24204 None None None None None None ABCB4|0.238504845|32.55%
View 33011510240923_annotated 7 rs2109505
dbSNP Clinvar
87079406 696.77 T A PASS 0/1 87 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.26138 0.26140 0.22490 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 33011510240923_annotated 7 rs59334881
dbSNP Clinvar
20785002 581.77 G A PASS 0/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.01018 0.01018 0.01153 0.04 0.93 None None None None None None ABCB5|0.12579132|46.5%
View 33011510240923_annotated 7 rs17143212
dbSNP Clinvar
20682884 5597.77 C T PASS 0/1 462 NON_SYNONYMOUS_CODING MODERATE None 0.07049 0.07049 0.04117 0.00 0.83 None None None None None None ABCB5|0.12579132|46.5%
View 33011510240923_annotated 7 rs10254317
dbSNP Clinvar
20768013 6401.77 G A PASS 1/1 222 SYNONYMOUS_CODING LOW None 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 33011510240923_annotated 7 rs2303926
dbSNP Clinvar
150733025 5743.77 T A PASS 1/1 192 SYNONYMOUS_CODING LOW None 0.30052 0.30050 0.31816 None None None None None None ABCB8|0.062047001|59.3%
View 33011510240923_annotated 7 rs35900662
dbSNP Clinvar
150734380 2434.77 T C PASS 1/1 75 None None None 0.30172 0.30170 0.00 None None None None None None ABCB8|0.062047001|59.3%
View 33011510240923_annotated 7 rs6975981
dbSNP Clinvar
150730712 1570.77 G A PASS 0/1 120 NON_SYNONYMOUS_CODING MODERATE None 0.03215 0.03215 0.02691 0.18 0.11 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 33011510240923_annotated 7 rs6464133
dbSNP Clinvar
150921950 4453.77 A G PASS 1/1 149 SYNONYMOUS_CODING LOW None 0.73902 0.73900 0.28925 None None None None None None ABCF2|0.445512851|18.39%
View 33011510240923_annotated 7 rs7786151
dbSNP Clinvar
150912786 1237.77 T C PASS 0/1 114 SYNONYMOUS_CODING LOW None 0.08706 0.08706 0.11341 None None None None None None ABCF2|0.445512851|18.39%
View 33011510240923_annotated 7 rs11538632
dbSNP Clinvar
150920919 1228.77 G A PASS 0/1 104 SYNONYMOUS_CODING LOW None 0.01318 0.01318 0.01253 None None None None None None ABCF2|0.445512851|18.39%

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 33011510240923_annotated 7 rs11972689
dbSNP Clinvar
80805263 2830.77 C T PASS 0/1 214 NON_SYNONYMOUS_CODING MODERATE None 0.27756 0.27760 0.81 None None None None None None None
View 33011510240923_annotated 7 rs142068413
dbSNP Clinvar
80817241 1841.77 T C PASS 0/1 149 NON_SYNONYMOUS_CODING MODERATE None 0.00100 0.00100 0.62 None None None None None None None

AC008060.7

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 33011510240923_annotated 7 rs76509638
dbSNP Clinvar
155174952 4394.77 C T PASS 1/1 142 NON_SYNONYMOUS_CODING MODERATE None 0.00819 0.00819 0.69 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 33011510240923_annotated 7 rs700747
dbSNP Clinvar
46732428 4207.77 A G PASS 1/1 126 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 33011510240923_annotated 7 rs2007015
dbSNP Clinvar
155755826 843.77 A G PASS 0/1 78 SYNONYMOUS_CODING LOW None 0.70647 0.70650 None None None None None None None
View 33011510240923_annotated 7 rs1551630
dbSNP Clinvar
155757502 1547.77 T C PASS 1/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.96965 0.96960 0.00 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 33011510240923_annotated 7 rs62439695
dbSNP Clinvar
6714028 2746.77 G A PASS 0/1 226 SYNONYMOUS_CODING LOW None 0.19090 0.19090 None None None None None None None
View 33011510240923_annotated 7 rs2243620
dbSNP Clinvar
6713985 6127.77 A G PASS 1/1 222 NON_SYNONYMOUS_CODING MODERATE None 0.83486 0.83490 0.55 0.00 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 33011510240923_annotated 7 rs73672278
dbSNP Clinvar
3197788 177.77 G C PASS 0/1 17 SYNONYMOUS_CODING LOW None 0.09744 0.09744 None None None None None None None
View 33011510240923_annotated 7 rs4634530
dbSNP Clinvar
3197867 1107.77 T C PASS 1/1 39 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 33011510240923_annotated 7 rs28664023
dbSNP Clinvar
154989982 1834.77 G A PASS 0/1 163 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 33011510240923_annotated 7 rs6954673
dbSNP Clinvar
1886937 1146.77 C T PASS 0/1 92 NON_SYNONYMOUS_CODING MODERATE None 0.31749 0.31750 0.00 None None None None None None MAD1L1|0.134111219|45.25%
View 33011510240923_annotated 7 rs6957894
dbSNP Clinvar
1887362 2178.77 G A PASS 0/1 174 NON_SYNONYMOUS_CODING MODERATE None 0.40775 0.40770 0.93 None None None None None None MAD1L1|0.134111219|45.25%
View 33011510240923_annotated 7 rs1078112
dbSNP Clinvar
1878453 1287.77 T A PASS 0/1 108 NON_SYNONYMOUS_CODING MODERATE None 0.44449 0.44450 0.62 None None None None None None MAD1L1|0.134111219|45.25%
View 33011510240923_annotated 7 rs3889573
dbSNP Clinvar
1878377 2975.77 A G PASS 1/1 101 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 33011510240923_annotated 7 rs7636
dbSNP Clinvar
100490077 4311.77 G A PASS 1/1 143 SYNONYMOUS_CODING LOW None 0.10523 0.10520 0.10895 None None None None None None ACHE|0.455026425|17.93%

ACN9

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 33011510240923_annotated 7 rs10266441
dbSNP Clinvar
96810485 1010.77 T C PASS 0/1 113 SYNONYMOUS_CODING LOW None 0.03415 0.03415 0.03398 None None None None None None SDHAF3|0.051150176|62.29%

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 33011510240923_annotated 7 rs10256887
dbSNP Clinvar
940181 631.77 C T PASS 0/1 37 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%

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 33011510240923_annotated 7 rs2968558
dbSNP Clinvar
140373326 1050.77 A G PASS 1/1 38 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 33011510240923_annotated 7 rs1140034
dbSNP Clinvar
140374049 3623.77 T C PASS 1/1 119 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%

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 33011510240923_annotated 7 rs2595701
dbSNP Clinvar
44148553 2020.77 A G PASS 1/1 73 SYNONYMOUS_CODING LOW None 0.78874 0.78870 0.25836 None None None None None None AEBP1|0.046717327|63.68%
View 33011510240923_annotated 7 rs13928
dbSNP Clinvar
44153780 1707.77 A G PASS 0/1 113 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%
View 33011510240923_annotated 7 rs138297087
dbSNP Clinvar
44153618 840.77 G A PASS 0/1 104 NON_SYNONYMOUS_CODING MODERATE None 0.00020 0.00020 0.00092 0.01 0.14 None None None None None None AEBP1|0.046717327|63.68%
View 33011510240923_annotated 7 rs2537188
dbSNP Clinvar
44147485 193.77 C A PASS 0/1 23 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 33011510240923_annotated 7 rs11975687
dbSNP Clinvar
44149270 1167.77 C T PASS 0/1 102 None None None 0.01498 0.01498 0.00 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 33011510240923_annotated 7 rs4236655
dbSNP Clinvar
134701856 6235.77 G C PASS 1/1 216 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 33011510240923_annotated 7 rs9656447
dbSNP Clinvar
134719551 6651.77 C G PASS 1/1 231 SYNONYMOUS_CODING LOW None 0.90974 0.90970 0.06855 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 33011510240923_annotated 7 rs17855473
dbSNP Clinvar
100160264 2255.77 T C PASS 1/1 81 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 33011510240923_annotated 7 rs4719480
dbSNP Clinvar
16834551 13142.77 C A PASS 1/1 438 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 33011510240923_annotated 7 rs4719482
dbSNP Clinvar
16872913 1190.77 G A PASS 0/1 105 NON_SYNONYMOUS_CODING MODERATE None 0.48363 0.48360 0.12 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 33011510240923_annotated 7 rs2066853
dbSNP Clinvar
17379110 1488.77 G A PASS 0/1 148 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%

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 33011510240923_annotated 7 rs1989779
dbSNP Clinvar
91632306 1832.77 C T PASS 1/1 60 SYNONYMOUS_CODING LOW None 0.93590 0.93590 0.09365 None None None None None None AKAP9|0.267262044|30.07%
View 33011510240923_annotated 7 rs13245393
dbSNP Clinvar
91641928 287.77 A G PASS 0/1 23 SYNONYMOUS_CODING LOW None 0.37380 0.37380 0.44180 None None None None None None AKAP9|0.267262044|30.07%
View 33011510240923_annotated 7 rs6964587
dbSNP Clinvar
91630620 2152.77 G T PASS 0/1 224 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 33011510240923_annotated 7 rs1063243
dbSNP Clinvar
91726927 250.77 A C PASS 0/1 19 SYNONYMOUS_CODING LOW None 0.37740 0.37740 0.44626 None None None None None None AKAP9|0.267262044|30.07%
View 33011510240923_annotated 7 rs78515732
dbSNP Clinvar
91624931 1291.77 A G PASS 0/1 112 SYNONYMOUS_CODING LOW None 0.01098 0.01098 0.01092 None None None None None None AKAP9|0.267262044|30.07%
View 33011510240923_annotated 7 rs10228334
dbSNP Clinvar
91713972 188.77 C T PASS 0/1 19 None None None 0.37380 0.37380 0.44096 None None None None None None AKAP9|0.267262044|30.07%
View 33011510240923_annotated 7 rs1063242
dbSNP Clinvar
91714911 2255.77 C T PASS 1/1 80 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%

AKR1B10

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 33011510240923_annotated 7 rs1722883
dbSNP Clinvar
134215403 2668.77 T C PASS 1/1 84 SYNONYMOUS_CODING LOW None 0.53315 0.53310 0.44526 None None None None None None AKR1B10|0.014962544|77.15%
View 33011510240923_annotated 7 rs28545160
dbSNP Clinvar
134221826 418.77 A G SNP_QC 1/1 12 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None None None None None None None AKR1B10|0.014962544|77.15%

AMPH

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 33011510240923_annotated 7 rs2215955
dbSNP Clinvar
38469039 5078.77 C A PASS 1/1 176 None None None 0.30611 0.30610 0.00 0.91 None None None None None None AMPH|0.168231418|40.54%
View 33011510240923_annotated 7 rs2392572
dbSNP Clinvar
38468695 6039.77 C T PASS 1/1 194 None None None 0.89956 0.89960 0.77 0.00 None None None None None None AMPH|0.168231418|40.54%

AMZ1

Omim - GeneCards - NCBI
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 33011510240923_annotated 7 rs798565
dbSNP Clinvar
2752152 1427.77 G A PASS 1/1 43 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 33011510240923_annotated 7 rs61740421
dbSNP Clinvar
92027080 1833.77 C T PASS 0/1 128 SYNONYMOUS_CODING LOW None 0.04872 0.04872 0.03329 None None None None None None ANKIB1|0.445469557|18.4%

ANKMY2

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 33011510240923_annotated 7 rs541797
dbSNP Clinvar
16640491 1343.77 G A PASS 0/1 143 SYNONYMOUS_CODING LOW None 0.17991 0.17990 0.16123 None None None None None None ANKMY2|0.129496668|45.94%

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 33011510240923_annotated 7 rs61748358
dbSNP Clinvar
117874517 729.77 A G PASS 0/1 92 NON_SYNONYMOUS_CODING MODERATE None 0.00439 0.00439 0.00487 0.11 0.35 None None None None None None ANKRD7|0.005530332|85.18%

ANLN

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 33011510240923_annotated 7 rs197367
dbSNP Clinvar
36445856 884.77 G A PASS 0/1 83 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 33011510240923_annotated 7 rs2228411
dbSNP Clinvar
36763688 3395.77 C T PASS 1/1 120 SYNONYMOUS_CODING LOW None 0.37820 0.37820 0.41143 None None None None None None AOAH|0.05743156|60.58%
View 33011510240923_annotated 7 rs7790095
dbSNP Clinvar
36729757 1477.77 T C PASS 1/1 48 None None None 0.82228 0.82230 None None None None None None AOAH|0.05743156|60.58%
View 33011510240923_annotated 7 rs145455591
dbSNP Clinvar
36554130 2793.77 G A PASS 0/1 237 STOP_GAINED HIGH None 0.00739 0.00739 None None None None None None AOAH|0.05743156|60.58%
View 33011510240923_annotated 7 rs57543920
dbSNP Clinvar
36552790 6003.73 G GT PASS 1/1 169 FRAME_SHIFT HIGH None 0.87740 0.87740 None None None None None None AOAH|0.05743156|60.58%
View 33011510240923_annotated 7 rs59476355
dbSNP Clinvar
36552729 10316.73 A AT PASS 1/1 310 FRAME_SHIFT HIGH None 0.99980 0.99980 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 33011510240923_annotated 7 rs1049748
dbSNP Clinvar
150556002 455.77 T C PASS 0/1 30 SYNONYMOUS_CODING LOW None 0.51578 0.51580 0.44399 None None None None None None AOC1|0.017990966|75.29%
View 33011510240923_annotated 7 rs10893
dbSNP Clinvar
150555915 2065.77 A G PASS 1/1 68 SYNONYMOUS_CODING LOW None 0.45907 0.45910 0.35710 None None None None None None AOC1|0.017990966|75.29%
View 33011510240923_annotated 7 rs10156191
dbSNP Clinvar
150553605 1485.77 C T PASS 0/1 125 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 33011510240923_annotated 7 rs12179
dbSNP Clinvar
150557622 4002.77 G A PASS 1/1 136 SYNONYMOUS_CODING LOW None 0.45328 0.45330 0.35954 None None None None None None AOC1|0.017990966|75.29%
View 33011510240923_annotated 7 rs1049793
dbSNP Clinvar
150557665 4655.77 C G PASS 1/1 163 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 33011510240923_annotated 7 rs6943147
dbSNP Clinvar
150556055 1330.77 C G PASS 1/1 30 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 33011510240923_annotated 7 rs6943420
dbSNP Clinvar
150556056 1330.77 G C PASS 1/1 31 SYNONYMOUS_CODING LOW None 1.00000 1.00000 None None None None None None AOC1|0.017990966|75.29%