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Genes:
ABCA13, ABCB1, ABCB4, ABCB5, ABCB8, ABCF2, ABHD11, AC004899.1, AC005481.5, AC006372.1, AC011294.3, AC021218.2, AC074389.6, AC091801.1, AC099552.4, AC110781.3, ADAM22, ADAP1, ADCY1, AEBP1, AGAP3, AGBL3, AGR2, AIMP2, AKAP9, AKR1B10, AMPH, AMZ1, ANKIB1, ANKRD61, ANLN, AOAH, AOC1, ARHGEF5, ASB15, ASNS, ASZ1, ATG9B, ATP6V0A4, AVL9, BAIAP2L1, BAZ1B, BBS9, BLACE, BLVRA, BMPER, BRAT1, C7orf25, C7orf26, C7orf31, C7orf57, C7orf63, C7orf65, C7orf69, C7orf71, C7orf72, CADPS2, CALCR, CALD1, CALU, CAMK2B, CAPZA2, CAV1, CCDC129, CCDC132, CCDC136, CCDC146, CCL24, CCT6A, CCZ1, CCZ1B, CDCA7L, CDHR3, CFTR, CHN2, CLCN1, CLIP2, CNOT4, COBL, COG5, COL1A2, COL26A1, COL28A1, CPA1, CPA2, CPA4, CPA5, CPED1, CPVL, CREB3L2, CRHR2, CRYGN, CUX1, CYP3A7, CYP51A1, CYTH3, DDC, DDX56, DENND2A, DFNA5, DGKB, DMTF1, DNAH11, DNAJB6, DNAJB9, DNAJC30, DPP6, DTX2, EEPD1, EGFR, EIF2AK1, EN2, EPDR1, EPHA1, EPHB4, EPHB6, EPO, ERV3-1, ESYT2, ETV1, EXOC4, FAM115C, FAM131B, FAM185A, FAM188B, FAM71F1, FAM71F2, FBXL13, FBXL18, FBXO24, FERD3L, FIS1, FLNC, FOXK1, FOXP2, FSCN1, FZD1, GAL3ST4, GALNTL5, GARS, GATS, GBAS, GCC1, GET4, GHRHR, GIGYF1, GIMAP6, GIMAP7, GIMAP8, GLCCI1, GLI3, GNA12, GPER1, GPNMB, GPR146, GPR37, GPR85, GRB10, GRID2IP, GSAP, GTF2IRD1, GTPBP10, HBP1, HDAC9, HEATR2, HECW1, HIBADH, HOXA1, HOXA4, HOXA7, HYAL4, ICA1, IGF2BP3, IGFBP1, IGFBP3, IKZF1, IMPDH1, INMT, INTS1, IQCE, IQUB, IRF5, ITGB8, KBTBD2, KDELR2, KIAA0087, KIAA1549, KLF14, KLHL7, KLRG2, KMT2C, KPNA7, KRBA1, LAMB1, LAMTOR4, LANCL2, LHFPL3, LMBR1, LMOD2, LMTK2, LRCH4, LRGUK, LRRC17, LRRD1, LRWD1, LSM5, MACC1, MAD1L1, MAGI2, MCM7, MDFIC, MDH2, MEOX2, MET, METTL2B, MGAM, MICALL2, MIOS, MLXIPL, MPP6, MRPL32, MTERF, MTURN, MUC12, MUC17, MUC3A, MYL7, MYO1G, NACAD, NAMPT, NAPEPLD, NAT16, NCF1, NME8, NOBOX, NOD1, NOM1, NOS3, NPSR1, NPVF, NRCAM, NRF1, NT5C3A, NUB1, NUDT1, NUP205, NUPR1L, OGDH, OR2A1, OR2AE1, OR6V1, OR9A2, OSBPL3, PAPOLB, PAX4, PAXIP1, PAXIP1-AS2, PCLO, PDE1C, PDK4, PEX1, PHF14, PHKG1, PHTF2, PIK3CG, PILRA, PKD1L1, PLEKHA8, PLXNA4, PMS2, PODXL, POM121, POM121L12, POMZP3, PON1, PON2, PON3, POR, PP13004, PPP1R3A, PPP1R9A, PRKAR1B, PRKAR2B, PRR15, PRRT4, PRSS1, PRSS37, PRSS58, PSMC2, PSPH, PTPRN2, PTPRZ1, PURB, PVRIG, RAB19, RADIL, RAPGEF5, RASA4B, RBM33, RBM48, RELN, RHBDD2, RP11-1220K2.2, RP9, RPA3-AS1, RSPH10B, RSPH10B2, SCIN, SDK1, SEMA3A, SEMA3C, SEMA3E, SEPT14, SFRP4, SH2B2, SLC12A9, SLC13A1, SLC13A4, SLC26A3, SLC29A4, SLC35B4, SLC37A3, SLC4A2, SMO, SMURF1, SNX13, SNX8, SP8, SPAM1, SRCRB4D, SRRM3, SRRT, ST7-OT4, STAG3, STEAP1B, STEAP2, STEAP4, STK17A, STK31, STX1A, SUGCT, SUMF2, SVOPL, TAS2R16, TAS2R3, TAS2R38, TAS2R4, TAS2R40, TAS2R5, TAS2R60, TBL2, TBX20, TBXAS1, TECPR1, TFEC, TFR2, THSD7A, TMED4, TMEM106B, TMEM120A, TMEM130, TMEM140, TMEM176A, TMEM176B, TMEM178B, TMEM184A, TMEM209, TMEM213, TNPO3, TNRC18, TNS3, TRBC2, TRBV10-1, TRBV10-2, TRBV11-1, TRBV19, TRBV2, TRBV20-1, TRBV25-1, TRBV27, TRBV3-1, TRBV4-1, TRBV4-2, TRBV5-3, 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, TRGC1, TRGC2, TRGJ1, TRGV2, TRGV3, TRGV4, TRGV9, TRIM24, TRIM4, TRIM50, TRIM56, TRIP6, TRPV6, TSPAN12, TSPAN13, TWISTNB, UFSP1, UPK3B, UPK3BL, URGCP, USP42, VIPR2, VPS41, VSTM2A, VWC2, VWDE, WASL, WBSCR17, WBSCR27, WBSCR28, WDR60, WDR86, WDR91, WEE2, WIPF3, WIPI2, WNT16, YAE1D1, YWHAG, ZAN, ZC3HAV1, ZC3HC1, ZCWPW1, ZFAND2A, ZMIZ2, ZNF107, ZNF117, ZNF12, ZNF138, ZNF212, ZNF273, ZNF282, ZNF3, ZNF398, ZNF425, ZNF479, ZNF679, ZNF713, ZNF727, ZNF775, ZNF777, ZNF783, ZNF804B, ZNF862, ZP3,

Genes at Omim

ABCB1, ABCB4, ADAM22, ADCY1, AEBP1, AIMP2, AKAP9, ANLN, ASNS, ATP6V0A4, BLVRA, BMPER, BRAT1, CALCR, CAMK2B, CAV1, CFTR, CLCN1, COG5, COL1A2, CUX1, DDC, DNAH11, DNAJB6, DPP6, EGFR, EPHB4, EPO, FLNC, FOXP2, GARS, GHRHR, GLCCI1, GLI3, GPNMB, HOXA1, IKZF1, IMPDH1, IQCE, IRF5, KLHL7, KMT2C, LAMB1, LMBR1, MAD1L1, MAGI2, MDH2, MET, NCF1, NME8, NOBOX, NOS3, NPSR1, NT5C3A, NUP205, OGDH, PAX4, PCLO, PDE1C, PEX1, PKD1L1, PMS2, PON1, PON2, POR, PPP1R3A, PRSS1, PSPH, RELN, RP9, SEMA3A, SEMA3E, SFRP4, SLC26A3, STAG3, TAS2R16, TAS2R38, TBX20, TBXAS1, TFR2, TMEM106B, TNPO3, TRPV6, TSPAN12, WDR60, WEE2, YWHAG, 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)
AIMP2 Leukodystrophy, hypomyelinating, 17, 618006 (3)
AKAP9 ?Long QT syndrome-11, 611820 (3)
ANLN Focal segmental glomerulosclerosis 8, 616032 (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)
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)
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)
EPO {Microvascular complications of diabetes 2}, 612623 (3)
?Diamond-Blackfan anemia-like, 617911 (3)
Erythrocytosis, familial, 5, 617907 (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)
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)
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)
KLHL7 Cold-induced sweating syndrome 3, 617055 (3)
Retinitis pigmentosa 42, 612943 (3)
KMT2C Kleefstra syndrome 2, 617768 (3)
LAMB1 Lissencephaly 5, 615191 (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)
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)
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)
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)
PPP1R3A Insulin resistance, severe, digenic, 125853 (3)
PRSS1 Pancreatitis, hereditary, 167800 (3)
Trypsinogen deficiency, 614044 (1)
PSPH Phosphoserine phosphatase deficiency, 614023 (3)
RELN Lissencephaly 2 (Norman-Roberts type), 257320 (3)
{Epilepsy, familial temporal lobe, 7}, 616436 (3)
RP9 ?Retinitis pigmentosa 9, 180104 (3)
SEMA3A {Hypogonadotropic hypogonadism 16 with or without anosmia}, 614897 (3)
SEMA3E ?CHARGE syndrome, 214800 (3)
SFRP4 Pyle disease, 265900 (3)
SLC26A3 Diarrhea 1, secretory chloride, congenital, 214700 (3)
STAG3 Premature ovarian failure 8, 615723 (3)
TAS2R16 [Beta-glycopyranoside tasting], 617956 (3) {Alcohol dependence, susceptibility to}, 103780 (3)
TAS2R38 [Phenylthiocarbamide tasting], 171200 (3)
TBX20 Atrial septal defect 4, 611363 (3)
TBXAS1 Ghosal hematodiaphyseal syndrome, 231095 (3)
?Thromboxane synthase deficiency, 614158 (1)
TFR2 Hemochromatosis, type 3, 604250 (3)
TMEM106B Leukodystrophy, hypomyelinating, 16, 617964 (3)
TNPO3 Muscular dystrophy, limb-girdle, autosomal dominant 2, 608423 (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)
YWHAG Epileptic encephalopathy, early infantile, 56, 617665 (3)
ZP3 Oocyte maturation defect 3, 617712 (3)

Genes at Clinical Genomics Database

ABCB1, ABCB4, ADCY1, AKAP9, ANLN, ASNS, ATP6V0A4, BBS9, BLVRA, BMPER, BRAT1, CAV1, CFTR, CLCN1, COG5, COL1A2, DDC, DFNA5, DNAH11, DNAJB6, DPP6, EGFR, FLNC, FOXP2, GARS, GHRHR, GLI3, HOXA1, IKZF1, IMPDH1, KLHL7, LAMB1, LMBR1, MET, NCF1, NME8, NOBOX, NT5C3A, NUP205, PAX4, PEX1, PMS2, PON1, POR, PPP1R3A, PRSS1, PSPH, RELN, RP9, SEMA3A, SEMA3E, SLC26A3, STAG3, SUGCT, TAS2R38, TBX20, 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
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
BBS9 Bardet-Biedl syndrome 9
BLVRA Hyperbiliverdinemia
BMPER Diaphanospondylodysostosis
BRAT1 Rigidity and multifocal seizure syndrome, lethal neonatal
CAV1 Lipodystrophy, congenital generalized, type 3
Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
CFTR Cystic fibrosis
CLCN1 Myotonia congenita, autosomal dominant
Myotonia congenita, autosomal recessive, Myotonia levior
COG5 Congenital disorder of glycosylation, type IIi
COL1A2 Ehlers-Danlos syndrome, cardiac valvular form
DDC Aromatic l-amino acid decarboxylase deficiency
DFNA5 Deafness, autosomal dominant 5
DNAH11 Ciliary dyskinesia, primary, 7
DNAJB6 Muscular dystrophy, limb-girdle, type 1E
DPP6 Ventricular fibrillation, paroxysmal familial, 2
EGFR Acute myeloid leukemia, familial
Lung cancer, familial, susceptibilty to
Inflammatory skin and bowel disease, neonatal, 2
FLNC Myopathy, distal, 4
Myopathy, myofibrillar, 5
FOXP2 Speech-language disorder 1
GARS Charcot-Marie-Tooth disease, type 2D
Neuropathy, distal hereditary motor, type V
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
HOXA1 Athabaskan brainstem dysgenesis syndrome
Bosley-Salih-Alorainy syndrome
IKZF1 Immunodeficiency, common variable, 13
IMPDH1 Retinitis pigmentosa 10
Leber congenital amaurosis 11
KLHL7 Retinitis pigmentosa 42
LAMB1 Lissencephaly 5
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
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
PON1 Clopidogrel treatment, sensitivity to
POR Antley-Bixler syndrome
Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency
PPP1R3A Insulin resistance, severe, digenic
PRSS1 Pancreatitis, hereditary
PSPH Phosphoserine phosphatase deficiency
RELN Epilepsy, familial temporal lobe, 7
Lissencephaly 2
RP9 Retinitis pigmentosa 9
SEMA3A Hypogonadotropic hypogonadism 16 with or without anosmia
SEMA3E CHARGE syndrome
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
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: 4698
Number of Genes: 464

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 myexome-1 annotated mendelmd 7 rs2222648
dbSNP Clinvar
48318811 1856.77 C T PASS 1/1 56 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 myexome-1 annotated mendelmd 7 rs6583448
dbSNP Clinvar
48545976 3909.77 A G PASS 1/1 124 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.00 None None None None None None ABCA13|0.04721773|63.52%
View myexome-1 annotated mendelmd 7 rs4917153
dbSNP Clinvar
48506642 796.77 A G PASS 0/1 83 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 myexome-1 annotated mendelmd 7 rs4917152
dbSNP Clinvar
48506566 494.77 A G PASS 0/1 54 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 myexome-1 annotated mendelmd 7 rs6583546
dbSNP Clinvar
48336844 1612.77 C T PASS 0/1 167 SYNONYMOUS_CODING LOW None 0.76897 0.76900 0.35105 None None None None None None ABCA13|0.04721773|63.52%
View myexome-1 annotated mendelmd 7 rs1880738
dbSNP Clinvar
48285485 1448.77 C T PASS 0/1 128 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 myexome-1 annotated mendelmd 7 rs1358066
dbSNP Clinvar
48312674 1271.77 G A PASS 0/1 107 SYNONYMOUS_CODING LOW None 0.57528 0.57530 0.49452 None None None None None None ABCA13|0.04721773|63.52%
View myexome-1 annotated mendelmd 7 rs17547830
dbSNP Clinvar
48313510 569.77 A G PASS 0/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.18730 0.18730 0.30130 0.01 None None None None None None ABCA13|0.04721773|63.52%
View myexome-1 annotated mendelmd 7 rs13233225
dbSNP Clinvar
48314798 1392.77 G T PASS 0/1 124 SYNONYMOUS_CODING LOW None 0.21645 0.21650 0.33389 None None None None None None ABCA13|0.04721773|63.52%
View myexome-1 annotated mendelmd 7 rs1880736
dbSNP Clinvar
48315796 455.77 C A PASS 0/1 28 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 myexome-1 annotated mendelmd 7 rs74859514
dbSNP Clinvar
48315930 360.77 G C PASS 0/1 41 NON_SYNONYMOUS_CODING MODERATE None 0.03115 0.03115 0.06897 0.04 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 myexome-1 annotated mendelmd 7 rs1045642
dbSNP Clinvar
87138645 2240.77 A G PASS 1/1 72 SYNONYMOUS_CODING LOW None 0.60483 0.60480 0.42334 None None None None None None ABCB1|0.831468236|5.08%
View myexome-1 annotated mendelmd 7 rs1128503
dbSNP Clinvar
87179601 2084.77 A G PASS 1/1 61 SYNONYMOUS_CODING LOW None 0.58387 0.58390 0.35760 None None None None None None ABCB1|0.831468236|5.08%
View myexome-1 annotated mendelmd 7 rs2229109
dbSNP Clinvar
87179809 385.77 C T PASS 0/1 39 NON_SYNONYMOUS_CODING MODERATE None 0.01258 0.01258 0.02823 0.39 0.00 None None None None None None ABCB1|0.831468236|5.08%
View myexome-1 annotated mendelmd 7 rs2032582
dbSNP Clinvar
87160618 1567.77 A C PASS 1/1 48 NON_SYNONYMOUS_CODING MODERATE None 0.04872 0.61700 0.32193 1.00 0.00 None None None None None None ABCB1|0.831468236|5.08%

ABCB4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View myexome-1 annotated mendelmd 7 rs1202283
dbSNP Clinvar
87082292 1482.77 G A PASS 0/1 128 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 myexome-1 annotated mendelmd 7 rs6461515
dbSNP Clinvar
20778646 1334.77 G A PASS 1/1 44 NON_SYNONYMOUS_CODING MODERATE None 0.75679 0.75680 0.22620 0.13 0.34 None None None None None None ABCB5|0.12579132|46.5%
View myexome-1 annotated mendelmd 7 rs62453384
dbSNP Clinvar
20762646 508.77 G T PASS 0/1 43 NON_SYNONYMOUS_CODING MODERATE None 0.23223 0.23220 0.29909 0.00 0.88 None None None None None None ABCB5|0.12579132|46.5%
View myexome-1 annotated mendelmd 7 rs10254317
dbSNP Clinvar
20768013 2057.77 G A PASS 0/1 155 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 myexome-1 annotated mendelmd 7 rs4148844
dbSNP Clinvar
150730999 1035.77 G A PASS 0/1 77 NON_SYNONYMOUS_CODING MODERATE None 0.05970 0.05970 0.05221 0.79 0.00 None None None None None None ABCB8|0.062047001|59.3%
View myexome-1 annotated mendelmd 7 rs56198402
dbSNP Clinvar
150739054 916.77 G A PASS 0/1 78 NON_SYNONYMOUS_CODING MODERATE None 0.02656 0.02656 0.02937 0.27 0.08 None None None None None None ABCB8|0.062047001|59.3%
View myexome-1 annotated mendelmd 7 rs61741011
dbSNP Clinvar
150742388 282.77 A C PASS 0/1 29 SYNONYMOUS_CODING LOW None 0.05931 0.05931 0.05044 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 myexome-1 annotated mendelmd 7 rs6464133
dbSNP Clinvar
150921950 1394.77 A G PASS 0/1 110 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 myexome-1 annotated mendelmd 7 rs6460052
dbSNP Clinvar
73151644 2796.77 A G PASS 0/1 198 SYNONYMOUS_CODING LOW None 0.60463 0.60460 0.41458 None None None None None None ABHD11|0.015871051|76.55%

AC004899.1

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 myexome-1 annotated mendelmd 7 rs4404869
dbSNP Clinvar
48887548 1851.77 G C PASS 1/1 59 NON_SYNONYMOUS_CODING MODERATE None 0.58766 0.58770 0.00 None None None None None None None

AC005481.5

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 myexome-1 annotated mendelmd 7 rs73744812
dbSNP Clinvar
157408290 1079.77 G A PASS 0/1 74 NON_SYNONYMOUS_CODING MODERATE None 0.08606 0.08606 0.53 0.00 None None None None None None PTPRN2|0.133975302|45.29%
View myexome-1 annotated mendelmd 7 rs114374899
dbSNP Clinvar
157408146 1067.77 G A PASS 0/1 63 NON_SYNONYMOUS_CODING MODERATE None 0.05351 0.05351 0.41 0.50 None None None None None None PTPRN2|0.133975302|45.29%

AC006372.1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View myexome-1 annotated mendelmd 7 rs62475320
dbSNP Clinvar
157318712 1389.77 C T PASS 0/1 91 NON_SYNONYMOUS_CODING MODERATE None 0.23023 0.23020 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 myexome-1 annotated mendelmd 7 rs700747
dbSNP Clinvar
46732428 3175.77 A G PASS 1/1 93 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 myexome-1 annotated mendelmd 7 rs1551630
dbSNP Clinvar
155757502 862.77 T C PASS 1/1 27 NON_SYNONYMOUS_CODING MODERATE None 0.96965 0.96960 0.00 None None None None None None None
View myexome-1 annotated mendelmd 7 rs2007015
dbSNP Clinvar
155755826 800.77 A G PASS 1/1 29 SYNONYMOUS_CODING LOW None 0.70647 0.70650 None None None None None None None

AC074389.6

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View myexome-1 annotated mendelmd 7 rs56130225
dbSNP Clinvar
1733192 3822.77 C T PASS 0/1 184 NON_SYNONYMOUS_CODING MODERATE None 0.08027 0.08027 0.00 0.21 None None None None None None ELFN1|0.050148349|62.62%
View myexome-1 annotated mendelmd 7 rs79496824
dbSNP Clinvar
1733182 3879.77 C T PASS 0/1 184 NON_SYNONYMOUS_CODING MODERATE None 0.12121 0.12120 0.00 0.00 None None None None None None ELFN1|0.050148349|62.62%
View myexome-1 annotated mendelmd 7 rs117250982
dbSNP Clinvar
1733474 651.77 G A PASS 0/1 46 STOP_GAINED HIGH None 0.00859 0.00859 None None None None None None ELFN1|0.050148349|62.62%

AC091801.1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View myexome-1 annotated mendelmd 7 rs4634530
dbSNP Clinvar
3197867 562.77 T C PASS 0/1 31 None None None 0.44828 0.44830 None None None None None None None
View myexome-1 annotated mendelmd 7 rs10951088
dbSNP Clinvar
3205705 258.78 T G PASS 1/1 8 None None None 0.87101 0.87100 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 myexome-1 annotated mendelmd 7 rs2317164
dbSNP Clinvar
154989054 952.77 C T PASS 0/1 74 SYNONYMOUS_CODING LOW None 0.17113 0.17110 None None None None None None None
View myexome-1 annotated mendelmd 7 rs12532373
dbSNP Clinvar
154990003 778.77 C T PASS 0/1 56 NON_SYNONYMOUS_CODING MODERATE None 0.17133 0.17130 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 myexome-1 annotated mendelmd 7 rs73046334
dbSNP Clinvar
1887037 1385.77 T C PASS 0/1 111 SYNONYMOUS_CODING LOW None 0.15595 0.15600 None None None None None None MAD1L1|0.134111219|45.25%
View myexome-1 annotated mendelmd 7 rs3889573
dbSNP Clinvar
1878377 475.77 A G PASS 0/1 54 START_LOST HIGH None 0.83646 0.83650 0.00 None None None None None None MAD1L1|0.134111219|45.25%
View myexome-1 annotated mendelmd 7 rs6957894
dbSNP Clinvar
1887362 1510.77 G A PASS 0/1 100 NON_SYNONYMOUS_CODING MODERATE None 0.40775 0.40770 0.93 None None None None None None MAD1L1|0.134111219|45.25%
View myexome-1 annotated mendelmd 7 rs6954673
dbSNP Clinvar
1886937 1174.77 C T PASS 0/1 87 NON_SYNONYMOUS_CODING MODERATE None 0.31749 0.31750 0.00 None None None None None None MAD1L1|0.134111219|45.25%
View myexome-1 annotated mendelmd 7 rs1078112
dbSNP Clinvar
1878453 668.77 T A PASS 0/1 62 NON_SYNONYMOUS_CODING MODERATE None 0.44449 0.44450 0.62 None None None None None None MAD1L1|0.134111219|45.25%

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 myexome-1 annotated mendelmd 7 rs17255978
dbSNP Clinvar
87754915 547.77 G A PASS 0/1 31 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%
View myexome-1 annotated mendelmd 7 rs2279542
dbSNP Clinvar
87564497 634.77 C G PASS 1/1 18 NON_SYNONYMOUS_CODING MODERATE None 0.63039 0.63040 0.36502 0.75 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 myexome-1 annotated mendelmd 7 rs10256887
dbSNP Clinvar
940181 372.77 C T PASS 0/1 24 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 myexome-1 annotated mendelmd 7 rs150403059
dbSNP Clinvar
943844 725.77 G A PASS 0/1 50 SYNONYMOUS_CODING LOW None 0.00040 0.00040 0.00092 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 myexome-1 annotated mendelmd 7 rs1042009
dbSNP Clinvar
45703971 908.77 G A PASS 0/1 73 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 myexome-1 annotated mendelmd 7 rs13928
dbSNP Clinvar
44153780 2750.77 A G PASS 1/1 86 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 myexome-1 annotated mendelmd 7 rs28362521
dbSNP Clinvar
44144284 252.77 C A PASS 0/1 14 NON_SYNONYMOUS_CODING MODERATE None 0.01857 0.01857 0.01585 0.00 0.00 None None None None None None AEBP1|0.046717327|63.68%
View myexome-1 annotated mendelmd 7 rs2537188
dbSNP Clinvar
44147485 307.77 C A PASS 0/1 20 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 myexome-1 annotated mendelmd 7 rs61736256
dbSNP Clinvar
44153614 979.77 C G PASS 0/1 63 SYNONYMOUS_CODING LOW None 0.04573 0.04573 0.03729 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 myexome-1 annotated mendelmd 7 rs201953499
dbSNP Clinvar
150837174 177.77 G A PASS 0/1 15 NON_SYNONYMOUS_CODING MODERATE None 0.00034 0.08 0.39 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 myexome-1 annotated mendelmd 7 rs9656447
dbSNP Clinvar
134719551 4798.77 C G PASS 1/1 147 SYNONYMOUS_CODING LOW None 0.90974 0.90970 0.06855 None None None None None None AGBL3|0.045265094|64.12%
View myexome-1 annotated mendelmd 7 rs4236655
dbSNP Clinvar
134701856 5253.77 G C PASS 1/1 167 NON_SYNONYMOUS_CODING MODERATE None 0.91054 0.91050 0.06833 0.13 0.98 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 myexome-1 annotated mendelmd 7 rs6842
dbSNP Clinvar
16834597 3728.77 A G PASS 0/1 278 SYNONYMOUS_CODING LOW None 0.33546 0.33550 0.38490 None None None None None None AGR2|0.129707594|45.92%
View myexome-1 annotated mendelmd 7 rs4719482
dbSNP Clinvar
16872913 1329.77 G A PASS 0/1 85 NON_SYNONYMOUS_CODING MODERATE None 0.48363 0.48360 0.12 0.00 None None None None None None AGR2|0.129707594|45.92%
View myexome-1 annotated mendelmd 7 rs4719480
dbSNP Clinvar
16834551 3307.77 C A PASS 0/1 222 None None None 0.91633 0.91630 0.13063 0.00 0.00 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 myexome-1 annotated mendelmd 7 rs4560
dbSNP Clinvar
6063283 3228.29 C T PASS 1/1 101 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 myexome-1 annotated mendelmd 7 rs6960867
dbSNP Clinvar
91712698 1167.77 A G PASS 0/1 104 NON_SYNONYMOUS_CODING MODERATE None 0.29593 0.29590 0.35607 0.00 None None None None None None AKAP9|0.267262044|30.07%
View myexome-1 annotated mendelmd 7 rs1063243
dbSNP Clinvar
91726927 236.77 A C PASS 0/1 20 SYNONYMOUS_CODING LOW None 0.37740 0.37740 0.44626 None None None None None None AKAP9|0.267262044|30.07%
View myexome-1 annotated mendelmd 7 rs28927678
dbSNP Clinvar
91715662 1713.77 C T PASS 0/1 147 SYNONYMOUS_CODING LOW None 0.29573 0.29570 0.35568 None None None None None None AKAP9|0.267262044|30.07%
View myexome-1 annotated mendelmd 7 rs1063242
dbSNP Clinvar
91714911 1747.77 C T PASS 1/1 53 NON_SYNONYMOUS_CODING MODERATE None 0.99880 0.99880 0.00261 0.00 None None None None None None AKAP9|0.267262044|30.07%
View myexome-1 annotated mendelmd 7 rs6964587
dbSNP Clinvar
91630620 1346.77 G T PASS 0/1 124 NON_SYNONYMOUS_CODING MODERATE None 0.37220 0.37220 0.44047 0.00 None None None None None None AKAP9|0.267262044|30.07%
View myexome-1 annotated mendelmd 7 rs1989779
dbSNP Clinvar
91632306 1276.77 C T PASS 1/1 40 SYNONYMOUS_CODING LOW None 0.93590 0.93590 0.09365 None None None None None None AKAP9|0.267262044|30.07%
View myexome-1 annotated mendelmd 7 rs13245393
dbSNP Clinvar
91641928 338.77 A G PASS 0/1 20 SYNONYMOUS_CODING LOW None 0.37380 0.37380 0.44180 None None None None None None AKAP9|0.267262044|30.07%
View myexome-1 annotated mendelmd 7 rs10228334
dbSNP Clinvar
91713972 61.77 C T PASS 0/1 16 None None None 0.37380 0.37380 0.44096 None None None None None None AKAP9|0.267262044|30.07%
View myexome-1 annotated mendelmd 7 rs10644111,rs397825978
dbSNP Clinvar
91652178 340.77 A AAAC PASS 0/1 26 CODON_CHANGE_PLUS_CODON_INSERTION MODERATE None 0.42472 0.42470 0.47907 None None None None None None AKAP9|0.267262044|30.07%
View myexome-1 annotated mendelmd 7 rs10236397
dbSNP Clinvar
91691601 95.77 C T PASS 0/1 17 SYNONYMOUS_CODING LOW None 0.35982 0.35980 0.42773 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 myexome-1 annotated mendelmd 7 rs4728329
dbSNP Clinvar
134225827 1008.77 A G PASS 1/1 29 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 myexome-1 annotated mendelmd 7 rs28545160
dbSNP Clinvar
134221826 239.77 A G PASS 0/1 54 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None -1.27 0.00 0.05289 T None None None None AKR1B10|0.014962544|77.15%
View myexome-1 annotated mendelmd 7 rs1722883
dbSNP Clinvar
134215403 606.77 T C PASS 0/1 71 SYNONYMOUS_CODING LOW None 0.53315 0.53310 0.44526 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 myexome-1 annotated mendelmd 7 rs2392572
dbSNP Clinvar
38468695 5464.77 C T PASS 1/1 164 None None None 0.89956 0.89960 0.77 0.00 None None None None None None AMPH|0.168231418|40.54%
View myexome-1 annotated mendelmd 7 rs1058655
dbSNP Clinvar
38431481 340.77 C A PASS 0/1 29 SYNONYMOUS_CODING LOW None 0.13239 0.13240 0.16223 None None None None None None AMPH|0.168231418|40.54%
View myexome-1 annotated mendelmd 7 rs1058656
dbSNP Clinvar
38431436 212.77 C T PASS 0/1 21 SYNONYMOUS_CODING LOW None 0.17891 0.17890 0.21590 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 myexome-1 annotated mendelmd 7 rs7776970
dbSNP Clinvar
2752487 632.77 G A PASS 0/1 57 NON_SYNONYMOUS_CODING MODERATE None 0.32149 0.32150 0.37199 0.62 0.03 None None None None None None AMZ1|0.018288269|75.12%
View myexome-1 annotated mendelmd 7 rs798565
dbSNP Clinvar
2752152 288.77 G A PASS 0/1 32 SYNONYMOUS_CODING LOW None 0.17971 0.17970 0.22122 None None None None None None AMZ1|0.018288269|75.12%

ANKIB1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View myexome-1 annotated mendelmd 7 rs38794
dbSNP Clinvar
92028039 1175.77 C A PASS 0/1 100 NON_SYNONYMOUS_CODING MODERATE None 0.43910 0.43910 0.44607 0.26 0.00 None None None None None None ANKIB1|0.445469557|18.4%

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 myexome-1 annotated mendelmd 7 rs4724769
dbSNP Clinvar
6071060 2709.77 G A PASS 1/1 81 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 myexome-1 annotated mendelmd 7 rs2302334
dbSNP Clinvar
6075823 5054.77 A T PASS 1/1 150 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 myexome-1 annotated mendelmd 7 rs197367
dbSNP Clinvar
36445856 976.77 G A PASS 0/1 91 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%
View myexome-1 annotated mendelmd 7 rs61549495
dbSNP Clinvar
36447349 933.77 A ACTT PASS 0/1 54 CODON_INSERTION MODERATE None 0.44948 0.44950 0.38393 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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Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View myexome-1 annotated mendelmd 7 rs3735386
dbSNP Clinvar
36656035 1326.77 G C PASS 0/1 100 NON_SYNONYMOUS_CODING MODERATE None 0.06869 0.06869 0.10318 0.00 1.00 None None None None None None AOAH|0.05743156|60.58%
View myexome-1 annotated mendelmd 7 rs59476355
dbSNP Clinvar
36552729 5284.77 A AT PASS 1/1 159 FRAME_SHIFT HIGH None 0.99980 0.99980 None None None None None None AOAH|0.05743156|60.58%
View myexome-1 annotated mendelmd 7 rs57543920
dbSNP Clinvar
36552790 4586.77 G GT PASS 1/1 130 FRAME_SHIFT HIGH None 0.87740 0.87740 None None None None None None AOAH|0.05743156|60.58%
View myexome-1 annotated mendelmd 7 rs7790095
dbSNP Clinvar
36729757 1534.77 T C PASS 1/1 53 None None None 0.82228 0.82230 None None None None None None AOAH|0.05743156|60.58%
View myexome-1 annotated mendelmd 7 rs2228410
dbSNP Clinvar
36763672 1311.77 C T PASS 0/1 72 NON_SYNONYMOUS_CODING MODERATE None 0.35104 0.35100 0.26703 0.24 0.00 None None None None None None AOAH|0.05743156|60.58%

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 myexome-1 annotated mendelmd 7 rs6943420
dbSNP Clinvar
150556056 1020.77 G C PASS 1/1 23 SYNONYMOUS_CODING LOW None 1.00000 1.00000 None None None None None None AOC1|0.017990966|75.29%
View myexome-1 annotated mendelmd 7 rs1049748
dbSNP Clinvar
150556002 570.77 T C PASS 0/1 38 SYNONYMOUS_CODING LOW None 0.51578 0.51580 0.44399 None None None None None None AOC1|0.017990966|75.29%
View myexome-1 annotated mendelmd 7 rs6943147
dbSNP Clinvar
150556055 1020.77 C G PASS 1/1 24 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.08 0.02 None None None None None None AOC1|0.017990966|75.29%

ARHGEF5

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 myexome-1 annotated mendelmd 7 rs200279177
dbSNP Clinvar
144061119 76.77 C T MG_SNP_Filter 0/1 12 SYNONYMOUS_CODING LOW None 0.12081 0.12080 0.07239 None None None None None None ARHGEF5|0.018074391|75.24%

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 myexome-1 annotated mendelmd 7 rs4731112
dbSNP Clinvar
123269118 8892.77 G C PASS 1/1 284 NON_SYNONYMOUS_CODING MODERATE None 0.79173 0.79170 0.28033 1.00 0.00 None None None None None None ASB15|0.249466416|31.55%
View myexome-1 annotated mendelmd 7 rs11769381
dbSNP Clinvar
123264804 1126.77 C T PASS 0/1 94 SYNONYMOUS_CODING LOW None 0.46965 0.46960 0.40997 None None None None None None ASB15|0.249466416|31.55%
View myexome-1 annotated mendelmd 7 rs6962756
dbSNP Clinvar
123256427 2570.77 C T PASS 1/1 78 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%

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 myexome-1 annotated mendelmd 7 rs1049674
dbSNP Clinvar
97488569 660.77 A T PASS 0/1 50 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 myexome-1 annotated mendelmd 7 rs1029396
dbSNP Clinvar
117024820 564.77 T G PASS 0/1 48 NON_SYNONYMOUS_CODING MODERATE None 0.22424 0.22420 0.07543 0.00 0.13 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 myexome-1 annotated mendelmd 7 rs11393607,rs77573754
dbSNP Clinvar
150713902 418.77 G GC PASS 1/1 12 FRAME_SHIFT HIGH None 1.00000 1.00000 0.00099 None None None None None None ATG9B|0.090467592|53.12%
View myexome-1 annotated mendelmd 7 rs1835428
dbSNP Clinvar
150715817 1195.77 A G PASS 1/1 40 SYNONYMOUS_CODING LOW None 0.82069 0.82070 0.18169 None None None None None None ATG9B|0.090467592|53.12%

ATP6V0A4

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View myexome-1 annotated mendelmd 7 rs3807154
dbSNP Clinvar
138417718 1419.77 A G PASS 0/1 122 SYNONYMOUS_CODING LOW None 0.67752 0.67750 0.36691 None None None None None None ATP6V0A4|0.084008171|54.41%
View myexome-1 annotated mendelmd 7 rs10258719
dbSNP Clinvar
138455988 1364.77 A G PASS 1/1 43 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%