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Genes:
ABCA13, ABCB1, ABCB4, ABCB5, ABHD11, ACHE, ADAM22, ADAP1, ADCY1, AEBP1, AGBL3, AGFG2, AGMO, AGR2, AIMP2, AKAP9, AKR1B10, AMZ1, ANKIB1, ANKMY2, ANLN, AOAH, AOC1, ARMC10, ASNS, ASZ1, ATG9B, ATP6V0A4, AVL9, BAIAP2L1, BAZ1B, BLVRA, BMPER, BRAT1, BRI3, C7orf26, C7orf31, C7orf57, C7orf63, C7orf69, C7orf71, CACNA2D1, CADPS2, CALD1, CALU, CARD11, CASD1, CASP2, CAV2, CBLL1, CCDC129, CCDC132, CCDC136, CCDC146, CCM2, CCT6A, CCZ1, CCZ1B, CDHR3, CFTR, CHN2, CLCN1, CLIP2, CNOT4, CNTNAP2, COBL, COG5, COL1A2, COL26A1, COL28A1, CPA1, CPA2, CPA4, CPA5, CPED1, CPVL, CTAGE6, CUX1, CYP2W1, CYP3A43, CYP3A7, CYP51A1, CYTH3, DBNL, DDC, DDX56, DENND2A, DGKB, DMTF1, DNAH11, DNAJB9, DNAJC30, DOCK4, DPP6, DPY19L1, DTX2, EEPD1, EGFR, ELN, EPDR1, EPHA1, EPHB4, ETV1, EXOC4, FAM131B, FAM185A, FAM188B, FAM20C, FAM220A, FAM221A, FBXL13, FBXL18, FIGNL1, FIS1, FLNC, FOXK1, FSCN1, GAL3ST4, GALNTL5, GARS, GATS, GHRHR, GIGYF1, GIMAP7, GLCCI1, GLI3, GNGT1, GPNMB, GPR37, GPR85, GRB10, GRID2IP, GSAP, GTPBP10, GUSB, HBP1, HDAC9, HEATR2, HECW1, HERPUD2, HOXA1, HOXA4, HOXA7, IFRD1, IGF2BP3, IGFBP1, IKZF1, IL6, ING3, INMT, INTS1, IRF5, ITGB8, KBTBD2, KCNH2, KCTD7, KDELR2, KIAA1549, KMT2C, KPNA7, KRBA1, KRIT1, LAMB1, LAMB4, LAMTOR4, LANCL2, LRCH4, LRGUK, LRRC17, LRRC4, LRWD1, LSM5, MACC1, MAD1L1, MAGI2, MCM7, MDFIC, MEOX2, MET, METTL2B, MGAM, MICALL2, MIOS, MKRN1, MLXIPL, MMD2, MUC12, MYO1G, NACAD, NAMPT, NAPEPLD, NME8, NOBOX, NOS3, NPSR1, NPVF, NPY, NRCAM, NRF1, NT5C3A, NUB1, NUDT1, NUP205, NUPL2, OPN1SW, OR2A1, OR2A12, OR2A14, OR2A2, OR2A25, OR2A5, OR2AE1, OR2F1, OR2F2, OR6B1, ORAI2, PARP12, PAX4, PAXIP1, PCLO, PDE1C, PDIA4, PEX1, PHF14, PHTF2, PIK3CG, PILRA, PKD1L1, PLXNA4, PMS2, PODXL, POLM, POM121C, POM121L12, PON1, PON2, PON3, POR, POU6F2, PPP1R3A, PPP1R9A, PRKAR1B, PRKAR2B, PRR15, PRSS1, PRSS58, PSMC2, PTPN12, PTPRN2, PTPRZ1, PVRIG, RADIL, RAPGEF5, RBAK, RBAK-RBAKDN, RBM33, RELN, RHBDD2, RSBN1L, SAMD9, SCIN, SDK1, SEMA3A, SEMA3C, SEMA3E, SFRP4, SGCE, SLC12A9, SLC13A1, SLC13A4, SLC25A13, SLC26A3, SLC29A4, SLC35B4, SLC37A3, SLC4A2, SMO, SND1, SNX8, SPDYE1, SPDYE3, SRRT, STAG3, STEAP1B, STEAP2, STEAP4, STK17A, STK31, STRA8, STX1A, STYXL1, SUGCT, SUMF2, SUN1, SVOPL, TAS2R16, TAS2R38, TAS2R41, TAS2R60, TBX20, TBXAS1, TECPR1, TFR2, THSD7A, TMED4, TMEM106B, TMEM120A, TMEM130, TMEM140, TMEM176A, TMEM176B, TMEM178B, TMEM184A, TMEM213, TMEM60, TNPO3, TNRC18, TNS3, TRIM4, TRIM50, TRIP6, TRPV6, TRRAP, TSC22D4, TSPAN12, TSPAN13, TYW1, UFSP1, UPK3B, VIPR2, VOPP1, VPS41, VWDE, WBSCR17, WBSCR27, WBSCR28, WDR60, WDR86, WDR91, WEE2, WIPI2, YWHAG, ZAN, ZC3HAV1, ZC3HAV1L, ZC3HC1, ZDHHC4, ZKSCAN5, ZMIZ2, ZNF107, ZNF117, ZNF138, ZNF3, ZNF398, ZNF425, ZNF479, ZNF680, ZNF713, ZNF716, ZNF727, ZNF736, ZNF777, ZNF783, ZNF804B, ZNF853, ZNF862, ZNF92, ZYX,

Genes at Omim

ABCB1, ABCB4, ACHE, ADAM22, ADCY1, AEBP1, AIMP2, AKAP9, ANLN, ASNS, ATP6V0A4, BLVRA, BMPER, BRAT1, CARD11, CFTR, CLCN1, CNTNAP2, COG5, COL1A2, CUX1, DDC, DNAH11, DPP6, EGFR, ELN, EPHB4, FAM20C, FLNC, GARS, GHRHR, GLCCI1, GLI3, GPNMB, GUSB, HOXA1, IKZF1, IL6, IRF5, KCNH2, KCTD7, KMT2C, LAMB1, MAD1L1, MAGI2, MET, MMD2, NME8, NOBOX, NOS3, NPSR1, NT5C3A, NUP205, OPN1SW, PAX4, PCLO, PDE1C, PEX1, PKD1L1, PMS2, PON1, PON2, POR, POU6F2, PPP1R3A, PRSS1, PTPN12, RELN, SAMD9, SEMA3A, SEMA3E, SFRP4, SGCE, SLC25A13, SLC26A3, STAG3, TAS2R16, TAS2R38, TBX20, TBXAS1, TFR2, TMEM106B, TNPO3, TRPV6, TSPAN12, WDR60, WEE2, YWHAG,
ABCB1 {Inflammatory bowel disease 13}, 612244 (3)
{Colchicine resistance}, 120080 (3)
ABCB4 Gallbladder disease 1, 600803 (3)
Cholestasis, intrahepatic, of pregnancy, 3, 614972 (3)
Cholestasis, progressive familial intrahepatic 3, 602347 (3)
ACHE [Blood group, Yt system], 112100 (3)
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)
CARD11 B-cell expansion with NFKB and T-cell anergy, 616452 (3)
Immunodeficiency 11A, 615206 (3)
Immunodeficiency 11B with atopic dermatitis, 617638 (3)
CFTR {Hypertrypsinemia, neonatal} (3)
Congenital bilateral absence of vas deferens, 277180 (3)
Cystic fibrosis, 219700 (3)
{Pancreatitis, hereditary}, 167800 (3)
Sweat chloride elevation without CF (3)
{Bronchiectasis with or without elevated sweat chloride 1, modifier of}, 211400 (3)
CLCN1 Myotonia congenita, dominant, 160800 (3)
Myotonia congenita, recessive, 255700 (3)
Myotonia levior, recessive (3)
CNTNAP2 Cortical dysplasia-focal epilepsy syndrome, 610042 (3)
Pitt-Hopkins like syndrome 1, 610042 (3)
{Autism susceptibility 15}, 612100 (3)
COG5 Congenital disorder of glycosylation, type IIi, 613612 (3)
COL1A2 {Osteoporosis, postmenopausal}, 166710 (3)
Ehlers-Danlos syndrome, arthrochalasia type, 2, 617821 (3)
Ehlers-Danlos syndrome, cardiac valvular type, 225320 (3)
Osteogenesis imperfecta, type II, 166210 (3)
Osteogenesis imperfecta, type III, 259420 (3)
Osteogenesis imperfecta, type IV, 166220 (3)
CUX1 Global developmental delay with or without impaired intellectual development, 618330 (3)
DDC Aromatic L-amino acid decarboxylase deficiency, 608643 (3)
DNAH11 Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)
DPP6 {Ventricular fibrillation, paroxysmal familial, 2}, 612956 (3)
Mental retardation, autosomal dominant 33, 616311 (3)
EGFR Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, 211980 (3)
{Nonsmall cell lung cancer, susceptibility to}, 211980 (3)
?Inflammatory skin and bowel disease, neonatal, 2, 616069 (3)
Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, 211980 (3)
ELN Cutis laxa, autosomal dominant, 123700 (3)
Supravalvar aortic stenosis, 185500 (3)
EPHB4 Capillary malformation-arteriovenous malformation 2, 618196 (3)
Lymphatic malformation 7, 617300 (3)
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)
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)
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)
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)
KCTD7 Epilepsy, progressive myoclonic 3, with or without intracellular inclusions, 611726 (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)
MET Hepatocellular carcinoma, childhood type, somatic, 114550 (3)
{Osteofibrous dysplasia, susceptibility to}, 607278 (3)
?Deafness, autosomal recessive 97, 616705 (3)
Renal cell carcinoma, papillary, 1, familial and somatic, 605074 (3)
MMD2 Miyoshi muscular dystrophy 2 (2)
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)
OPN1SW Colorblindness, tritan, 190900 (3)
PAX4 Diabetes mellitus, type 2, 125853 (3)
Maturity-onset diabetes of the young, type IX, 612225 (3)
{Diabetes mellitus, ketosis-prone, susceptibility to}, 612227 (3)
PCLO ?Pontocerebellar hypoplasia, type 3, 608027 (3)
PDE1C ?Deafness, autosomal dominant 74, 618140 (3)
PEX1 Heimler syndrome 1, 234580 (3)
Peroxisome biogenesis disorder 1A (Zellweger), 214100 (3)
Peroxisome biogenesis disorder 1B (NALD/IRD), 601539 (3)
PKD1L1 Heterotaxy, visceral, 8, autosomal, 617205 (3)
PMS2 Colorectal cancer, hereditary nonpolyposis, type 4, 614337 (3)
Mismatch repair cancer syndrome, 276300 (3)
PON1 {Microvascular complications of diabetes 5}, 612633 (3)
{Organophosphate poisoning, sensitivity to} (3)
{Coronary artery disease, susceptibility to} (3)
{Coronary artery spasm 2, susceptibility to (3)
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)
POU6F2 {Wilms tumor susceptibility-5}, 601583 (3)
PPP1R3A Insulin resistance, severe, digenic, 125853 (3)
PRSS1 Pancreatitis, hereditary, 167800 (3)
Trypsinogen deficiency, 614044 (1)
PTPN12 Colon cancer, somatic, 114500 (3)
RELN Lissencephaly 2 (Norman-Roberts type), 257320 (3)
{Epilepsy, familial temporal lobe, 7}, 616436 (3)
SAMD9 MIRAGE syndrome, 617053 (3)
Tumoral calcinosis, familial, normophosphatemic, 610455 (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)
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)

Genes at Clinical Genomics Database

ABCB1, ABCB4, ACHE, ADCY1, AKAP9, ANLN, ASNS, ATP6V0A4, BLVRA, BMPER, BRAT1, CARD11, CCM2, CFTR, CLCN1, CNTNAP2, COG5, COL1A2, DDC, DNAH11, DPP6, EGFR, ELN, FAM20C, FLNC, GARS, GHRHR, GLI3, GUSB, HOXA1, IKZF1, KCNH2, KCTD7, KRIT1, LAMB1, MET, NME8, NOBOX, NT5C3A, NUP205, OPN1SW, PAX4, PEX1, PMS2, PON1, POR, POU6F2, PPP1R3A, PRSS1, RELN, SAMD9, SEMA3A, SEMA3E, SGCE, SLC25A13, SLC26A3, STAG3, SUGCT, TAS2R38, TBX20, TBXAS1, TFR2, 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
ACHE Blood group, Yt system
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
BLVRA Hyperbiliverdinemia
BMPER Diaphanospondylodysostosis
BRAT1 Rigidity and multifocal seizure syndrome, lethal neonatal
CARD11 B-cell expansion with NFKB and T-cell anergy
Immunodeficiency 11
CCM2 Cerebral cavernous malformations 2
CFTR Cystic fibrosis
CLCN1 Myotonia congenita, autosomal dominant
Myotonia congenita, autosomal recessive, Myotonia levior
CNTNAP2 Cortical dysplasia-focal epilepsy syndrome
Pitt-Hopkins like syndrome 1
COG5 Congenital disorder of glycosylation, type IIi
COL1A2 Ehlers-Danlos syndrome, cardiac valvular form
DDC Aromatic l-amino acid decarboxylase deficiency
DNAH11 Ciliary dyskinesia, primary, 7
DPP6 Ventricular fibrillation, paroxysmal familial, 2
EGFR Acute myeloid leukemia, familial
Lung cancer, familial, susceptibilty to
Inflammatory skin and bowel disease, neonatal, 2
ELN Cutis laxa, autosomal dominant 1
Supravalvular aortic stenosis
FAM20C Hypophosphatemia,hyperphosphaturia, dental anomalies, intracerebral calcifications and osteosclerosis (Raine syndrome)
FLNC Myopathy, distal, 4
Myopathy, myofibrillar, 5
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
GUSB Mucopolysaccharidosis type VII
HOXA1 Athabaskan brainstem dysgenesis syndrome
Bosley-Salih-Alorainy syndrome
IKZF1 Immunodeficiency, common variable, 13
KCNH2 Long QT syndrome 2
Short QT syndrome 1
KCTD7 Epilepsy, progressive myoclonic 3, with or without intracellular inclusions
KRIT1 Cerebral cavernous malformations 1
LAMB1 Lissencephaly 5
MET Renal cell carcinoma, papillary
Deafness, autosomal recessive 97
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
OPN1SW Tritanopia
PAX4 Diabetes mellitus
PEX1 Heimler syndrome 1
PMS2 Colorectal cancer, hereditary nonpolyposis type 4
Mismatch repair cancer syndrome
PON1 Clopidogrel treatment, sensitivity to
POR Antley-Bixler syndrome
Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency
POU6F2 Wilms tumor 5
PPP1R3A Insulin resistance, severe, digenic
PRSS1 Pancreatitis, hereditary
RELN Epilepsy, familial temporal lobe, 7
Lissencephaly 2
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
TBX20 Atrial septal defect 4
TBXAS1 Ghosal hematodiaphyseal syndrome
TFR2 Hemochromatosis, type 3
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: 1622
Number of Genes: 368

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 046_tsvc_variants 7 rs17548783
dbSNP Clinvar
48450157 133.62 T C PASS 0/1 36 SYNONYMOUS_CODING LOW None 0.46266 0.46270 0.46629 None None None None None None ABCA13|0.04721773|63.52%
View 046_tsvc_variants 7 rs6583448
dbSNP Clinvar
48545976 926.99 A G PASS 1/1 99 NON_SYNONYMOUS_CODING MODERATE None 1.00000 1.00000 0.00 None None None None None None ABCA13|0.04721773|63.52%
View 046_tsvc_variants 7 rs78334925
dbSNP Clinvar
48317708 25.89 A C PASS 0/1 12 NON_SYNONYMOUS_CODING MODERATE None 0.09724 0.09724 0.06900 0.09 None None None None None None ABCA13|0.04721773|63.52%
View 046_tsvc_variants 7 rs1880738
dbSNP Clinvar
48285485 304.21 C T PASS 0/1 163 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 046_tsvc_variants 7 rs3931814
dbSNP Clinvar
48349647 55.91 C T PASS 0/1 45 NON_SYNONYMOUS_CODING MODERATE None 0.10963 0.10960 0.11313 0.00 None None None None None None ABCA13|0.04721773|63.52%
View 046_tsvc_variants 7 rs6583546
dbSNP Clinvar
48336844 648.15 C T PASS 1/1 71 SYNONYMOUS_CODING LOW None 0.76897 0.76900 0.35105 None None None None None None ABCA13|0.04721773|63.52%
View 046_tsvc_variants 7 rs1880736
dbSNP Clinvar
48315796 610.03 C A PASS 1/1 64 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 046_tsvc_variants 7 rs17712299
dbSNP Clinvar
48313881 22.75 T C PASS 0/1 8 NON_SYNONYMOUS_CODING MODERATE None 0.09645 0.09645 0.07398 0.99 None None None None None None ABCA13|0.04721773|63.52%
View 046_tsvc_variants 7 rs77190804
dbSNP Clinvar
48313757 158.99 G A PASS 0/1 58 SYNONYMOUS_CODING LOW None 0.09625 0.09625 0.07358 None None None None None None ABCA13|0.04721773|63.52%
View 046_tsvc_variants 7 rs78575608
dbSNP Clinvar
48312084 307.52 G C PASS 0/1 113 NON_SYNONYMOUS_CODING MODERATE None 0.02516 0.02516 0.04875 0.00 None None None None None None ABCA13|0.04721773|63.52%
View 046_tsvc_variants 7 rs2222648
dbSNP Clinvar
48318811 207.12 C T PASS 1/1 25 NON_SYNONYMOUS_CODING MODERATE None 0.85224 0.85220 0.22580 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 046_tsvc_variants 7 rs2032582
dbSNP Clinvar
87160618 36.8 A C PASS 0/1 33 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 046_tsvc_variants 7 rs1128503
dbSNP Clinvar
87179601 113.32 A G PASS 0/1 55 SYNONYMOUS_CODING LOW None 0.58387 0.58390 0.35760 None None None None None None ABCB1|0.831468236|5.08%

ABCB4

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 046_tsvc_variants 7 rs1202283
dbSNP Clinvar
87082292 767.62 G A PASS 1/1 83 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 046_tsvc_variants 7 rs61732039
dbSNP Clinvar
20687604 101.35 A G PASS 0/1 41 NON_SYNONYMOUS_CODING MODERATE None 0.04513 0.04513 0.10210 0.01 0.10 None None None None None None ABCB5|0.12579132|46.5%
View 046_tsvc_variants 7 rs6461515
dbSNP Clinvar
20778646 891.29 G A PASS 1/1 91 NON_SYNONYMOUS_CODING MODERATE None 0.75679 0.75680 0.22620 0.13 0.81 None None None None None None ABCB5|0.12579132|46.5%
View 046_tsvc_variants 7 rs34603556
dbSNP Clinvar
20691047 421.21 T C PASS 0/1 167 NON_SYNONYMOUS_CODING MODERATE None 0.10164 0.10160 0.15485 1.00 0.00 None None None None None None ABCB5|0.12579132|46.5%
View 046_tsvc_variants 7 rs2893006
dbSNP Clinvar
20687181 115.72 C T PASS 0/1 36 SYNONYMOUS_CODING LOW None 0.21945 0.21940 0.25908 None None None None None None ABCB5|0.12579132|46.5%
View 046_tsvc_variants 7 rs61227829
dbSNP Clinvar
20691219 369.0 G A PASS 0/1 169 SYNONYMOUS_CODING LOW None 0.05072 0.05072 0.10211 None None None None None None ABCB5|0.12579132|46.5%
View 046_tsvc_variants 7 rs2301641
dbSNP Clinvar
20698270 225.58 A G PASS 0/1 109 NON_SYNONYMOUS_CODING MODERATE None 0.36382 0.36380 0.39997 1.00 0.00 None None None None None None ABCB5|0.12579132|46.5%
View 046_tsvc_variants 7 rs7349983
dbSNP Clinvar
20683204 250.08 G T PASS 0/1 107 SYNONYMOUS_CODING LOW None 0.04493 0.04493 0.10155 None None None None None None ABCB5|0.12579132|46.5%
View 046_tsvc_variants 7 rs10254317
dbSNP Clinvar
20768013 571.54 G A PASS 1/1 69 SYNONYMOUS_CODING LOW None 0.59605 0.59600 0.47801 None None None None None None ABCB5|0.12579132|46.5%

ABHD11

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 046_tsvc_variants 7 rs6460052
dbSNP Clinvar
73151644 750.41 A G PASS 0/1 260 SYNONYMOUS_CODING LOW None 0.60463 0.60460 0.41458 None None None None None None ABHD11|0.015871051|76.55%

ACHE

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 046_tsvc_variants 7 rs1799806
dbSNP Clinvar
100488658 234.41 G C PASS 0/1 91 NON_SYNONYMOUS_CODING MODERATE None 0.26937 0.26940 0.34119 0.38 0.00 None None None None None None ACHE|0.455026425|17.93%

ADAM22

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 046_tsvc_variants 7 rs2279542
dbSNP Clinvar
87564497 188.27 C G PASS 0/1 103 NON_SYNONYMOUS_CODING MODERATE None 0.63039 0.63040 0.36502 0.75 0.01 None None None None None None ADAM22|0.517774472|15.06%

ADAP1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 046_tsvc_variants 7 rs10256887
dbSNP Clinvar
940181 351.11 C T PASS 1/1 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%

ADCY1

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 046_tsvc_variants 7 rs2293106
dbSNP Clinvar
45753324 2373.17 G A PASS 1/1 253 SYNONYMOUS_CODING LOW None 0.16713 0.16710 0.21406 None None None None None None ADCY1|0.149696441|43.08%

AEBP1

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 046_tsvc_variants 7 rs2595701
dbSNP Clinvar
44148553 594.04 A G PASS 0/1 269 SYNONYMOUS_CODING LOW None 0.78874 0.78870 0.25836 None None None None None None AEBP1|0.046717327|63.68%
View 046_tsvc_variants 7 rs2537188
dbSNP Clinvar
44147485 287.29 C A PASS 0/1 136 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%

AGBL3

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 046_tsvc_variants 7 rs2348049
dbSNP Clinvar
134678253 203.61 T A PASS 0/1 88 NON_SYNONYMOUS_CODING MODERATE None 0.22923 0.22920 0.07 0.09 None None None None None None AGBL3|0.045265094|64.12%
View 046_tsvc_variants 7 rs9656447
dbSNP Clinvar
134719551 550.58 C G PASS 1/1 57 SYNONYMOUS_CODING LOW None 0.90974 0.90970 0.06855 None None None None None None AGBL3|0.045265094|64.12%
View 046_tsvc_variants 7 rs4236655
dbSNP Clinvar
134701856 981.95 G C PASS 1/1 105 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%

AGFG2

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 046_tsvc_variants 7 rs17855473
dbSNP Clinvar
100160264 272.32 T C PASS 0/1 184 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%
View 046_tsvc_variants 7 . 100151813 132.73 A T PASS 0/1 90 NON_SYNONYMOUS_CODING MODERATE None 0.03 1.00 None None None None None None AGFG2|0.11533807|48.22%

AGMO

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 046_tsvc_variants 7 rs28635514
dbSNP Clinvar
15458186 195.95 T C PASS 0/1 80 SYNONYMOUS_CODING LOW None 0.06050 0.06050 0.06547 None None None None None None AGMO|0.125513442|46.55%

AGR2

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 046_tsvc_variants 7 rs4719480
dbSNP Clinvar
16834551 1513.19 C A PASS 1/1 160 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 046_tsvc_variants 7 rs6842
dbSNP Clinvar
16834597 381.8 A G PASS 0/1 160 SYNONYMOUS_CODING LOW None 0.33546 0.33550 0.38490 None None None None None None AGR2|0.129707594|45.92%

AIMP2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 046_tsvc_variants 7 rs4560
dbSNP Clinvar
6063283 1358.69 C T PASS 1/1 145 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 046_tsvc_variants 7 rs1063242
dbSNP Clinvar
91714911 1665.55 C T PASS 1/1 192 NON_SYNONYMOUS_CODING MODERATE None 0.99880 0.99880 0.00261 1.00 0.00 None None None None None None AKAP9|0.267262044|30.07%
View 046_tsvc_variants 7 rs28927678
dbSNP Clinvar
91715662 111.91 C T PASS 0/1 66 SYNONYMOUS_CODING LOW None 0.29573 0.29570 0.35568 None None None None None None AKAP9|0.267262044|30.07%
View 046_tsvc_variants 7 rs56295910
dbSNP Clinvar
91718874 110.77 A G PASS 0/1 41 None None None 0.01258 0.01258 0.01522 0.00 0.00 None None None None None None AKAP9|0.267262044|30.07%
View 046_tsvc_variants 7 rs1063243
dbSNP Clinvar
91726927 114.15 A C PASS 0/1 46 SYNONYMOUS_CODING LOW None 0.37740 0.37740 0.44626 None None None None None None AKAP9|0.267262044|30.07%
View 046_tsvc_variants 7 rs6964587
dbSNP Clinvar
91630620 263.47 G T PASS 0/1 102 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 046_tsvc_variants 7 rs6960867
dbSNP Clinvar
91712698 57.72 A G PASS 0/1 33 NON_SYNONYMOUS_CODING MODERATE None 0.29593 0.29590 0.35607 0.71 0.00 None None None None None None AKAP9|0.267262044|30.07%
View 046_tsvc_variants 7 rs10236397
dbSNP Clinvar
91691601 326.69 C T PASS 0/1 89 SYNONYMOUS_CODING LOW None 0.35982 0.35980 0.42773 None None None None None None AKAP9|0.267262044|30.07%
View 046_tsvc_variants 7 rs10644111,rs397825978
dbSNP Clinvar
91652178 37.72 A AAAC PASS 0/1 18 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 046_tsvc_variants 7 rs13245393
dbSNP Clinvar
91641928 102.4 A G PASS 0/1 36 SYNONYMOUS_CODING LOW None 0.37380 0.37380 0.44180 None None None None None None AKAP9|0.267262044|30.07%
View 046_tsvc_variants 7 rs1989779
dbSNP Clinvar
91632306 298.14 C T PASS 1/1 33 SYNONYMOUS_CODING LOW None 0.93590 0.93590 0.09365 None None None None None None AKAP9|0.267262044|30.07%
View 046_tsvc_variants 7 rs10228334
dbSNP Clinvar
91713972 212.75 C T PASS 0/1 50 None None None 0.37380 0.37380 0.44096 None None None None None None AKAP9|0.267262044|30.07%

AKR1B10

Omim - GeneCards - NCBI
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RsId
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 046_tsvc_variants 7 rs4728329
dbSNP Clinvar
134225827 1072.03 A G PASS 1/1 117 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 046_tsvc_variants 7 rs1722883
dbSNP Clinvar
134215403 289.38 T C PASS 0/1 116 SYNONYMOUS_CODING LOW None 0.53315 0.53310 0.44526 None None None None None None AKR1B10|0.014962544|77.15%

AMZ1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 046_tsvc_variants 7 rs7776970
dbSNP Clinvar
2752487 254.2 G A PASS 0/1 115 NON_SYNONYMOUS_CODING MODERATE None 0.32149 0.32150 0.37199 0.62 0.00 None None None None None None AMZ1|0.018288269|75.12%

ANKIB1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
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Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 046_tsvc_variants 7 rs1861635
dbSNP Clinvar
92027537 58.48 C G PASS 0/1 24 SYNONYMOUS_CODING LOW None 0.15475 0.15480 0.08448 None None None None None None ANKIB1|0.445469557|18.4%
View 046_tsvc_variants 7 rs141698304
dbSNP Clinvar
92028005 355.97 C G PASS 0/1 138 NON_SYNONYMOUS_CODING MODERATE None 0.00060 0.00060 0.00140 0.23 0.01 None None None None None None ANKIB1|0.445469557|18.4%

ANKMY2

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 046_tsvc_variants 7 rs11532682
dbSNP Clinvar
16666741 262.84 T G PASS 0/1 94 SYNONYMOUS_CODING LOW None 0.13998 0.14000 0.17354 None None None None None None ANKMY2|0.129496668|45.94%
View 046_tsvc_variants 7 rs11531477
dbSNP Clinvar
16666759 260.0 G C PASS 0/1 92 SYNONYMOUS_CODING LOW None 0.00120 0.00120 0.17323 None None None None None None ANKMY2|0.129496668|45.94%

ANLN

Omim - GeneCards - NCBI
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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 046_tsvc_variants 7 rs17213431
dbSNP Clinvar
36459076 216.67 G A PASS 0/1 150 SYNONYMOUS_CODING LOW None 0.07129 0.07129 0.09826 None None None None None None ANLN|0.180116375|39.04%
View 046_tsvc_variants 7 rs197367
dbSNP Clinvar
36445856 107.13 G A PASS 0/1 41 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
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Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 046_tsvc_variants 7 rs2228411
dbSNP Clinvar
36763688 680.28 C T PASS 1/1 72 SYNONYMOUS_CODING LOW None 0.37820 0.37820 0.41143 None None None None None None AOAH|0.05743156|60.58%
View 046_tsvc_variants 7 rs59476355
dbSNP Clinvar
36552729 346.87 A AT PASS 1/1 41 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 046_tsvc_variants 7 rs10156191
dbSNP Clinvar
150553605 86.52 C T PASS 0/1 83 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 046_tsvc_variants 7 rs6943147
dbSNP Clinvar
150556055 637.36 C G PASS 1/1 158 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 046_tsvc_variants 7 rs11771771
dbSNP Clinvar
150557578 186.57 G A PASS 0/1 137 NON_SYNONYMOUS_CODING MODERATE None 0.06210 0.06210 0.08386 0.21 0.00 None None None None None None AOC1|0.017990966|75.29%
View 046_tsvc_variants 7 rs1049748
dbSNP Clinvar
150556002 380.69 T C PASS 0/1 157 SYNONYMOUS_CODING LOW None 0.51578 0.51580 0.44399 None None None None None None AOC1|0.017990966|75.29%
View 046_tsvc_variants 7 rs369362976
dbSNP Clinvar
150557585 180.71 G T PASS 0/1 136 NON_SYNONYMOUS_CODING MODERATE None 0.00008 0.00 0.37 None None None None None None AOC1|0.017990966|75.29%

ARMC10

Omim - GeneCards - NCBI
Options Individual Chr
RsId
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Qual
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 046_tsvc_variants 7 . 102716265 233.77 C A PASS 0/1 95 NON_SYNONYMOUS_CODING MODERATE None 0.59 0.01 None None None None None None ARMC10|0.030367771|69.22%

ASNS

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 046_tsvc_variants 7 rs1049674
dbSNP Clinvar
97488569 394.88 A T PASS 0/1 130 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
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 046_tsvc_variants 7 rs1029396
dbSNP Clinvar
117024820 249.89 T G PASS 0/1 104 NON_SYNONYMOUS_CODING MODERATE None 0.22424 0.22420 0.07543 0.00 0.11 None None None None None None ASZ1|0.141301236|44.23%

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 046_tsvc_variants 7 rs1835428
dbSNP Clinvar
150715817 1228.28 A G PASS 1/1 127 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 046_tsvc_variants 7 rs3807154
dbSNP Clinvar
138417718 1116.5 A G PASS 1/1 117 SYNONYMOUS_CODING LOW None 0.67752 0.67750 0.36691 None None None None None None ATP6V0A4|0.084008171|54.41%
View 046_tsvc_variants 7 rs1026435
dbSNP Clinvar
138418910 574.79 G A PASS 1/1 60 SYNONYMOUS_CODING LOW None 0.71665 0.71670 0.31678 None None None None None None ATP6V0A4|0.084008171|54.41%
View 046_tsvc_variants 7 rs10258719
dbSNP Clinvar
138455988 888.11 A G PASS 1/1 95 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%

AVL9

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 046_tsvc_variants 7 rs52793627
dbSNP Clinvar
32598816 119.33 C T PASS 0/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.00419 0.00419 0.01469 0.17 0.02 None None None None None None AVL9|0.207787031|35.83%
View 046_tsvc_variants 7 rs1993050
dbSNP Clinvar
32613020 1012.52 A G PASS 1/1 106 SYNONYMOUS_CODING LOW None 0.56869 0.56870 0.41635 None None None None None None AVL9|0.207787031|35.83%

BAIAP2L1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 046_tsvc_variants 7 rs1045916
dbSNP Clinvar
97933601 820.57 C T PASS 0/1 372 SYNONYMOUS_CODING LOW None 0.55571 0.55570 0.37767 None None None None None None BRI3|0.027011351|70.88%,BAIAP2L1|0.061821177|59.37%

BAZ1B

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 046_tsvc_variants 7 rs2074754
dbSNP Clinvar
72891754 323.87 C T PASS 0/1 135 SYNONYMOUS_CODING LOW None 0.34764 0.34760 0.35192 None None None None None None BAZ1B|0.356018071|23.74%

BLVRA

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 046_tsvc_variants 7 rs7738
dbSNP Clinvar
43846603 18.71 A G PASS 0/1 17 SYNONYMOUS_CODING LOW None 0.47504 0.47500 0.42926 None None None None None None BLVRA|0.055967808|60.91%
View 046_tsvc_variants 7 rs699512
dbSNP Clinvar
43810764 145.12 G A PASS 0/1 50 NON_SYNONYMOUS_CODING MODERATE None 0.82109 0.82110 0.17999 0.52 0.00 None None None None None None BLVRA|0.055967808|60.91%

BMPER

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 046_tsvc_variants 7 rs6968741
dbSNP Clinvar
34192762 259.07 G C PASS 0/1 152 SYNONYMOUS_CODING LOW None 0.91014 0.91010 0.09696 None None None None None None BMPER|0.520309229|15%
View 046_tsvc_variants 7 rs77064045
dbSNP Clinvar
34125420 1223.78 G T PASS 1/1 130 SYNONYMOUS_CODING LOW None 0.18930 0.18930 0.24727 None None None None None None BMPER|0.520309229|15%

BRAT1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
Qual
Ref
Alt
Filter Gen
Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 046_tsvc_variants 7 rs4719552
dbSNP Clinvar
2578237 493.14 T C PASS 0/1 202 SYNONYMOUS_CODING LOW None 0.46086 0.46090 0.35401 None None None None None None BRAT1|0.009530255|81.22%
View 046_tsvc_variants 7 rs1043291
dbSNP Clinvar
2577781 253.32 T C PASS 0/1 86 SYNONYMOUS_CODING LOW None 0.46146 0.46150 0.43803 None None None None None None BRAT1|0.009530255|81.22%
View 046_tsvc_variants 7 rs755111152
dbSNP Clinvar
2580981 572.01 C T PASS 0/1 290 SYNONYMOUS_CODING LOW None None None None None None None BRAT1|0.009530255|81.22%

BRI3

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 046_tsvc_variants 7 rs145484995
dbSNP Clinvar
97920433 172.09 C T PASS 0/1 126 SYNONYMOUS_CODING LOW None 0.00319 0.00320 0.00146 None None None None None None BRI3|0.027011351|70.88%

C7orf26

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 046_tsvc_variants 7 rs34300529
dbSNP Clinvar
6639953 259.97 G A PASS 0/1 154 SYNONYMOUS_CODING LOW None 0.07588 0.07588 0.12909 None None None None None None C7orf26|0.073894896|56.53%

C7orf31

Omim - GeneCards - NCBI
Options Individual Chr
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 046_tsvc_variants 7 rs2523072
dbSNP Clinvar
25194665 100.19 G C PASS 0/1 37 NON_SYNONYMOUS_CODING MODERATE None 0.53834 0.53830 0.39828 0.19 0.92 None None None None None None C7orf31|0.027705707|70.55%
View 046_tsvc_variants 7 rs2285738
dbSNP Clinvar
25181912 497.74 T C PASS 1/1 52 NON_SYNONYMOUS_CODING MODERATE None 0.54593 0.54590 0.40458 0.04 0.03 None None None None None None C7orf31|0.027705707|70.55%
View 046_tsvc_variants 7 rs12535348
dbSNP Clinvar
25194753 52.69 C T PASS 0/1 23 NON_SYNONYMOUS_CODING MODERATE None 0.28135 0.28130 0.36906 0.17 0.75 None None None None None None C7orf31|0.027705707|70.55%

C7orf57

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 046_tsvc_variants 7 rs10233232
dbSNP Clinvar
48086161 1158.44 T C PASS 1/1 120 NON_SYNONYMOUS_CODING MODERATE None 0.82109 0.82110 0.12440 0.27 0.00 None None None None None None C7orf57|0.005729391|84.94%
View 046_tsvc_variants 7 rs2708912
dbSNP Clinvar
48086077 904.54 C T PASS 1/1 95 NON_SYNONYMOUS_CODING MODERATE None 0.82129 0.82130 0.12528 0.01 0.28 None None None None None None C7orf57|0.005729391|84.94%
View 046_tsvc_variants 7 rs10951942
dbSNP Clinvar
48081095 555.52 G T PASS 1/1 60 NON_SYNONYMOUS_CODING MODERATE None 0.35743 0.35740 0.36602 0.06 0.96 None None None None None None C7orf57|0.005729391|84.94%
View 046_tsvc_variants 7 rs2686791
dbSNP Clinvar
48092486 1105.79 T C PASS 1/1 118 SYNONYMOUS_CODING LOW None 0.82548 0.82550 0.11737 None None None None None None C7orf57|0.005729391|84.94%
View 046_tsvc_variants 7 rs2708890
dbSNP Clinvar
48089571 901.33 C A PASS 1/1 101 NON_SYNONYMOUS_CODING MODERATE None 0.82149 0.82150 0.12150 0.01 0.13 None None None None None None C7orf57|0.005729391|84.94%
View 046_tsvc_variants 7 rs2686788
dbSNP Clinvar
48089542 983.14 T C PASS 1/1 100 SYNONYMOUS_CODING LOW None 0.82508 0.82510 0.11694 None None None None None None C7orf57|0.005729391|84.94%

C7orf63

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 046_tsvc_variants 7 rs1029365
dbSNP Clinvar
89912301 70.8 G A PASS 0/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.88419 0.88420 0.20474 0.69 0.01 None None None None None None CFAP69|0.131174602|45.73%

C7orf69

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 046_tsvc_variants 7 rs9719534
dbSNP Clinvar
47835027 279.26 A G PASS 1/1 28 NON_SYNONYMOUS_CODING MODERATE None 0.66534 0.66530 0.94 0.00 None None None None None None HUS1|0.052679196|61.85%,PKD1L1|0.001445956|93.06%,C7orf69|0.000418768|98.85%

C7orf71

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 046_tsvc_variants 7 rs12671270
dbSNP Clinvar
26685934 279.33 T C PASS 0/1 90 SYNONYMOUS_CODING LOW None 0.28215 0.28210 0.31757 None None None None None None C7orf71|0.010255705|80.67%

CACNA2D1

Omim - GeneCards - NCBI
Options Individual Chr
RsId
Pos
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Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 046_tsvc_variants 7 rs1229502
dbSNP Clinvar
81588636 50.74 G A PASS 0/1 37 SYNONYMOUS_CODING LOW None 0.22264 0.22260 0.25527 None None None None None None CACNA2D1|0.586589445|12.28%

CADPS2

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 046_tsvc_variants 7 rs2251761
dbSNP Clinvar
122303321 1131.59 C T PASS 1/1 120 SYNONYMOUS_CODING LOW None 0.71805 0.71810 0.26668 None None None None None None CADPS2|0.856231857|4.53%
View 046_tsvc_variants 7 rs2074589
dbSNP Clinvar
122078414 484.59 T G PASS 1/1 50 SYNONYMOUS_CODING LOW None 0.28415 0.28410 0.25834 None None None None None None CADPS2|0.856231857|4.53%