SELECT VARIANTS FROM EXCLUDE VARIANTS FROM
INDIVIDUALS:

SNP LIST:
GROUPS:

SAVED GENE LIST:

GENE LIST:
INDIVIDUALS:

EXCLUDE SNP LIST:
EXCLUDE GROUPS:

EXCLUDE SAVED GENE LIST:

EXCLUDE GENE LIST:
SELECT YOUR DISEASES:
OMIM:
CLINICAL GENOMICS DATABASE:
HGMD:
MUTATION TYPE:
CHR:

POS:
VARIANT EFFECT FUNCTIONAL CLASS IMPACT
DBSNP BUILD:


EXCLUDE VARIANTS AT VARISNP
READ DEPTH:

QUAL:
VARIANTS PER GENE:
SHOW ONLY VARIANTS PRESENT IN COMMON GENES BETWEEN ALL THE INDIVIDUALS SELECTED
SHOW ONLY VARIANTS AT EXACTLY SAME POSITION BETWEEN ALL THE INDIVIDUALS SELECTED
EXCLUDE ALL VARIANTS PRESENT IN LATEST DBSNP BUILD
SHOW ONLY VARIANTS PRESENT AT HGMD

FREQUENCIES

1000 GENOMES FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN 1000GENOMES
DBSNP FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN DBSNP
ESP6500 FREQUENCY

EXCLUDE ALL VARIANTS PRESENT IN EXOME SEQUENCING PROJECT

SCORES

SIFT SCORE

EXCLUDE VARIANTS WITHOUT SIFT SCORE
POLYPHEN2 SCORE

EXCLUDE VARIANTS WITHOUT POLYPHEN SCORE
CADD

EXCLUDE VARIANTS WITHOUT CADD SCORE
MCAP

EXCLUDE VARIANTS WITHOUT M-CAP SCORE
OPEN RESULT IN A NEW WINDOW
RESET FILTER | Save Config | Save Analysis

Genes:
A2M, A2ML1, AAAS, AACS, ABCC9, AC004466.1, AC005841.1, AC092850.1, ACACB, ACADS, ACSM4, ACSS3, ACVRL1, ADAMTS20, AGAP2, AICDA, AKAP3, ALG10B, AMDHD1, AMHR2, AMIGO2, ANHX, ANKLE2, ANKRD13A, ANKRD33, ANKRD52, ANO2, ANO4, APOBEC1, APPL2, AQP2, ARF3, ARHGAP9, ARHGDIB, ARID2, ARL6IP4, ART4, ASCL1, ASIC1, ASUN, ATF1, ATF7IP, ATN1, ATP6V0A2, ATXN2, ATXN7L3B, AVIL, AVPR1A, B3GNT4, B4GALNT3, BAZ2A, BBS10, BCL7A, BEST3, BHLHE41, BIN2, BRI3BP, BTBD11, C12orf10, C12orf29, C12orf42, C12orf43, C12orf45, C12orf55, C12orf56, C12orf60, C12orf66, C12orf68, C12orf76, C12orf77, C1R, C1RL, C1S, C2CD5, CABP1, CACNA1C, CACNA2D4, CAMKK2, CAPRIN2, CAPS2, CASC1, CCDC38, CCDC41, CCDC53, CCDC60, CCDC62, CCDC63, CCDC77, CCDC91, CCDC92, CCND2, CD163, CD163L1, CD27, CD4, CDK2, CDKN1B, CELA1, CEP290, CERS5, CHFR, CHPT1, CIT, CKAP4, CLEC12B, CLEC1A, CLEC1B, CLEC2A, CLEC2D, CLEC4A, CLEC4C, CLEC4D, CLEC9A, CLECL1, CLIP1, CMAS, CNOT2, CNTN1, COL2A1, COPS7A, COPZ1, COQ5, CPM, CPNE8, CPSF6, CRADD, CRY1, CSRP2, CTD-2140B24.4, CTDSP2, CUX2, DAZAP2, DBX2, DCP1B, DDN, DDX11, DDX51, DDX55, DENND5B, DGKA, DHX37, DIP2B, DNAH10, DNAH10OS, DPY19L2, DTX1, DUSP6, DYRK2, E2F7, EEA1, EFCAB4B, EID3, EIF2S3L, EIF4B, EMG1, ERBB3, ERC1, ERGIC2, ERP27, ESPL1, FAM101A, FAM186A, FAM90A1, FBRSL1, FBXW8, FGD4, FGD6, FGF6, FOXM1, FRS2, FZD10, GALNT4, GALNT6, GALNT8, GALNT9, GAS2L3, GCN1L1, GDF3, GLI1, GLIPR1, GLIPR1L2, GLS2, GNB3, GNPTAB, GNS, GOLGA3, GPD1, GPR133, GPR19, GPRC5A, GRIN2B, GRIP1, GTF2H3, GUCY2C, GXYLT1, GYS2, HAL, HCAR1, HCAR3, HDAC7, HECTD4, HELB, HIGD1C, HIP1R, HNF1A, HOXC10, HOXC11, HOXC12, HOXC13, HOXC9, HPD, IAPP, IL22, IPO8, IQSEC3, IRAK3, IRAK4, ISCU, ITGA5, ITGA7, ITPR2, KCNA1, KCNA5, KCNA6, KCNH3, KDM2B, KDM5A, KERA, KIAA1033, KIAA1467, KIAA1551, KLRB1, KLRC1, KLRC2, KLRC3, KLRD1, KLRF1, KLRF2, KLRG1, KLRK1, KMT2D, KNTC1, KRAS, KRR1, KRT1, KRT2, KRT3, KRT4, KRT5, KRT6A, KRT6B, KRT6C, KRT7, KRT71, KRT72, KRT73, KRT74, KRT75, KRT76, KRT77, KRT78, KRT79, KRT8, KRT80, KRT81, KRT82, KRT83, KRT84, KRT86, KSR2, LAG3, LDHB, LEMD3, LEPREL2, LETMD1, LGR5, LIMA1, LLPH, LMBR1L, LRIG3, LRMP, LRP1, LRP6, LRRC23, LRRC43, LRRIQ1, LRRK2, LTBR, M6PR, MAGOHB, MANSC1, MANSC4, MAPKAPK5, MARCH9, MED21, METTL20, METTL25, MFSD5, MGAT4C, MGP, MLXIP, MMAB, MMP17, MMP19, MON2, MORN3, MTERFD3, MUC19, MUC8, MUCL1, MVK, MYBPC1, MYL6, MYO1A, MYO1H, MYRFL, NAA25, NAB2, NACA, NANOG, NAP1L1, NAV3, NCAPD2, NCKAP5L, NCOR2, NEDD1, NELL2, NOS1, NTF3, NUAK1, NUP107, NXPH4, OAS1, OAS2, OAS3, OASL, OGFOD2, OR10AD1, OR10P1, OR2AP1, OR6C1, OR6C4, OR6C6, OR6C65, OR6C68, OR6C70, OR6C74, OR6C76, OR8S1, OR9K2, ORAI1, OS9, OTOGL, OVCH1, P2RX7, PAH, PAN2, PARPBP, PAWR, PDE3A, PDE6H, PDZRN4, PFKM, PHB2, PHC1, PHLDA1, PIK3C2G, PIP4K2C, PIWIL1, PLBD1, PLBD2, PLCZ1, PLEKHG6, PLEKHG7, PLXNC1, PMEL, POLR3B, POP5, PPFIA2, PPFIBP1, PPHLN1, PPP1CC, PPP1R1A, PRB1, PRB2, PRB3, PRB4, PRICKLE1, PRIM1, PRR4, PSMD9, PTPN6, PTPRB, PTPRO, PTPRQ, PTPRR, PUS1, PUS7L, PWP1, PXMP2, PXN, PZP, RAPGEF3, RARG, RASAL1, RBM19, RBMS2, RBP5, RDH5, RECQL, REP15, RERG, RFX4, RHNO1, RHOF, RILPL1, RIMBP2, RIMKLB, RNF34, RNFT2, RPH3A, SART3, SBNO1, SCAF11, SCARB1, SCN8A, SCNN1A, SCYL2, SDSL, SETD1B, SETD8, SFSWAP, SH2B3, SLC11A2, SLC15A4, SLC15A5, SLC26A10, SLC2A14, SLC38A1, SLC38A2, SLC38A4, SLC41A2, SLC5A8, SLC6A12, SLC6A13, SLC6A15, SLCO1A2, SLCO1B1, SLCO1B3, SLCO1B7, SLCO1C1, SMAGP, SMCO2, SMCO3, SMUG1, SOAT2, SOCS2, SP1, SP7, SPPL3, SPRYD4, SRGAP1, SRRM4, SRSF9, SSPN, ST8SIA1, STAB2, STK38L, STX2, STYK1, SUDS3, SUOX, SYT1, TAPBPL, TAS2R10, TAS2R13, TAS2R14, TAS2R19, TAS2R20, TAS2R30, TAS2R31, TAS2R42, TAS2R43, TAS2R46, TAS2R50, TAS2R8, TAS2R9, TCHP, TCP11L2, TCTN2, TDG, TESPA1, THAP2, TIMELESS, TMBIM6, TMCC3, TMED2, TMEM116, TMEM119, TMEM120B, TMEM132B, TMEM132C, TMEM132D, TMEM194A, TMEM233, TMPRSS12, TMTC1, TMTC3, TNFRSF1A, TRAFD1, TRPV4, TSPAN11, TSPAN9, TUBA1A, TULP3, TXNRD1, UBC, UBE3B, UHRF1BP1L, ULK1, UNC119B, USP15, USP30, USP44, USP5, UTP20, VAMP1, VDR, VEZT, VWF, WDR66, WIBG, WIF1, WNK1, WNT10B, WSCD2, YAF2, ZDHHC17, ZFC3H1, ZNF10, ZNF140, ZNF26, ZNF268, ZNF384, ZNF705A, ZNF84, ZNF891,

Genes at Omim

A2M, A2ML1, AAAS, ABCC9, ACADS, ACVRL1, AICDA, ALG10B, AMHR2, ANKLE2, AQP2, ARID2, ART4, ASCL1, ATN1, ATP6V0A2, ATXN2, BBS10, BCL7A, BHLHE41, C1R, C1S, CACNA1C, CACNA2D4, CCND2, CD27, CD4, CDKN1B, CEP290, CIT, CLEC1A, CNTN1, COL2A1, CRADD, CRY1, CUX2, DDX11, DIP2B, DPY19L2, DUSP6, EMG1, ERBB3, FGD4, GDF3, GLI1, GNB3, GNPTAB, GNS, GPD1, GRIN2B, GRIP1, GUCY2C, GYS2, HAL, HNF1A, HOXC13, HPD, IRAK3, IRAK4, ISCU, ITGA7, ITPR2, KCNA1, KCNA5, KERA, KMT2D, KRAS, KRT1, KRT2, KRT3, KRT4, KRT5, KRT6A, KRT6B, KRT6C, KRT71, KRT74, KRT75, KRT8, KRT81, KRT83, KRT86, LDHB, LEMD3, LIMA1, LRP1, LRP6, LRRK2, MGP, MMAB, MMP19, MVK, MYBPC1, NCAPD2, NUP107, ORAI1, OTOGL, PAH, PDE3A, PDE6H, PFKM, PHC1, PLCZ1, POLR3B, PRICKLE1, PTPRO, PTPRQ, PUS1, RDH5, SCARB1, SCN8A, SCNN1A, SH2B3, SLC11A2, SLCO1B1, SLCO1B3, SP7, SRGAP1, SUOX, SYT1, TCTN2, TMTC3, TNFRSF1A, TRPV4, TUBA1A, UBE3B, VAMP1, VDR, VWF, WDR66, WNK1, WNT10B,
A2M Alpha-2-macroglobulin deficiency, 614036 (1)
{Alzheimer disease, susceptibility to}, 104300 (3)
A2ML1 {Otitis media, susceptibility to}, 166760 (3)
AAAS Achalasia-addisonianism-alacrimia syndrome, 231550 (3)
ABCC9 Atrial fibrillation, familial, 12, 614050 (3)
Cardiomyopathy, dilated, 1O, 608569 (3)
Hypertrichotic osteochondrodysplasia, 239850 (3)
ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470 (3)
ACVRL1 Telangiectasia, hereditary hemorrhagic, type 2, 600376 (3)
AICDA Immunodeficiency with hyper-IgM, type 2, 605258 (3)
ALG10B {Long QT syndrome, acquired, reduced susceptibility to}, 613688 (3)
AMHR2 Persistent Mullerian duct syndrome, type II, 261550 (3)
ANKLE2 ?Microcephaly 16, primary, autosomal recessive, 616681 (3)
AQP2 Diabetes insipidus, nephrogenic, 125800 (3)
ARID2 Coffin-Siris syndrome 6, 617808 (3)
ART4 [Blood group, Dombrock], 616060 (3)
ASCL1 Haddad syndrome, 209880 (3)
Central hypoventilation syndrome, congenital, 209880 (3)
ATN1 Dentatorubro-pallidoluysian atrophy, 125370 (3)
ATP6V0A2 Cutis laxa, autosomal recessive, type IIA, 219200 (3)
Wrinkly skin syndrome, 278250 (3)
ATXN2 {Parkinson disease, late-onset, susceptibility to}, 168600 (3)
Spinocerebellar ataxia 2, 183090 (3)
{Amyotrophic lateral sclerosis, susceptibility to, 13}, 183090 (3)
BBS10 Bardet-Biedl syndrome 10, 615987 (3)
BCL7A B-cell non-Hodgkin lymphoma, high-grade (3)
BHLHE41 [Short sleeper], 612975 (3)
C1R Ehlers-Danlos syndrome, periodontal type, 1, 130080 (3)
C1S C1s deficiency, 613783 (3)
Ehlers-Danlos syndrome, periodontal type, 2, 617174 (3)
CACNA1C Brugada syndrome 3, 611875 (3)
Timothy syndrome, 601005 (3)
CACNA2D4 Retinal cone dystrophy 4, 610478 (3)
CCND2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3, 615938 (3)
CD27 Lymphoproliferative syndrome 2, 615122 (3)
CD4 OKT4 epitope deficiency, 613949 (3)
CDKN1B Multiple endocrine neoplasia, type IV, 610755 (3)
CEP290 Joubert syndrome 5, 610188 (3)
Leber congenital amaurosis 10, 611755 (3)
Meckel syndrome 4, 611134 (3)
?Bardet-Biedl syndrome 14, 615991 (3)
Senior-Loken syndrome 6, 610189 (3)
CIT Microcephaly 17, primary, autosomal recessive, 617090 (3)
CLEC1A {Aspergillosis, susceptibility to}, 614079 (3)
CNTN1 ?Myopathy, congenital, Compton-North, 612540 (3)
COL2A1 Avascular necrosis of the femoral head, 608805 (3)
Achondrogenesis, type II or hypochondrogenesis, 200610 (3)
Czech dysplasia, 609162 (3)
Legg-Calve-Perthes disease, 150600 (3)
Epiphyseal dysplasia, multiple, with myopia and deafness, 132450 (3)
Kniest dysplasia, 156550 (3)
Osteoarthritis with mild chondrodysplasia, 604864 (3)
Platyspondylic skeletal dysplasia, Torrance type, 151210 (3)
SED congenita, 183900 (3)
SMED Strudwick type, 184250 (3)
Spondyloepiphyseal dysplasia, Stanescu type, 616583 (3)
Spondyloperipheral dysplasia, 271700 (3)
Stickler sydrome, type I, nonsyndromic ocular, 609508 (3)
Stickler syndrome, type I, 108300 (3)
Vitreoretinopathy with phalangeal epiphyseal dysplasia (3)
CRADD Mental retardation, autosomal recessive 34, with variant lissencephaly, 614499 (3)
CRY1 {Delayed sleep phase disorder, susceptibility to}, 614163 (3)
CUX2 Epileptic encephalopathy, early infantile, 67, 618141 (3)
DDX11 Warsaw breakage syndrome, 613398 (3)
DIP2B Mental retardation, FRA12A type, 136630 (3)
DPY19L2 Spermatogenic failure 9, 613958 (3)
DUSP6 Hypogonadotropic hypogonadism 19 with or without anosmia, 615269 (3)
EMG1 Bowen-Conradi syndrome, 211180 (3)
ERBB3 ?Lethal congenital contractural syndrome 2, 607598 (3)
{?Erythroleukemia, familial, susceptibility to}, 133180 (3)
FGD4 Charcot-Marie-Tooth disease, type 4H, 609311 (3)
GDF3 Klippel-Feil syndrome 3, autosomal dominant, 613702 (3)
Microphthalmia, isolated 7, 613704 (3)
Microphthalmia with coloboma 6, 613703 (3)
GLI1 Polydactyly, postaxial, type A8, 618123 (3)
GNB3 {Hypertension, essential, susceptibility to}, 145500 (3)
Night blindness, congenital stationary, type 1H, 617024 (3)
GNPTAB Mucolipidosis II alpha/beta, 252500 (3)
Mucolipidosis III alpha/beta, 252600 (3)
GNS Mucopolysaccharidosis type IIID, 252940 (3)
GPD1 Hypertriglyceridemia, transient infantile, 614480 (3)
GRIN2B Epileptic encephalopathy, early infantile, 27, 616139 (3)
Mental retardation, autosomal dominant 6, 613970 (3)
GRIP1 Fraser syndrome 3, 617667 (3)
GUCY2C Diarrhea 6, 614616 (3)
Meconium ileus, 614665 (3)
GYS2 Glycogen storage disease 0, liver, 240600 (3)
HAL [Histidinemia], 235800 (3)
HNF1A Hepatic adenoma, somatic, 142330 (3)
Diabetes mellitus, insulin-dependent, 20, 612520 (3)
MODY, type III, 600496 (3)
Renal cell carcinoma, 144700 (3)
{Diabetes mellitus, insulin-dependent}, 222100 (3)
{Diabetes mellitus, noninsulin-dependent, 2}, 125853 (3)
HOXC13 Ectodermal dysplasia 9, hair/nail type, 614931 (3)
HPD Hawkinsinuria, 140350 (3)
Tyrosinemia, type III, 276710 (3)
IRAK3 {Asthma susceptibility 5}, 611064 (3)
IRAK4 IRAK4 deficiency, 607676 (3)
Invasive pneumococcal disease, recurrent isolated, 1, 610799 (3)
ISCU Myopathy with lactic acidosis, hereditary, 255125 (3)
ITGA7 Muscular dystrophy, congenital, due to ITGA7 deficiency, 613204 (3)
ITPR2 ?Anhidrosis, isolated, with normal sweat glands, 106190 (3)
KCNA1 Episodic ataxia/myokymia syndrome, 160120 (3)
KCNA5 Atrial fibrillation, familial, 7, 612240 (3)
KERA Cornea plana 2, autosomal recessive, 217300 (3)
KMT2D Kabuki syndrome 1, 147920 (3)
KRAS Arteriovenous malformation of the brain, somatic, 108010 (3)
Gastric cancer, somatic, 137215 (3)
Bladder cancer, somatic, 109800 (3)
Breast cancer, somatic, 114480 (3)
Cardiofaciocutaneous syndrome 2, 615278 (3)
Leukemia, acute myeloid, 601626 (3)
Lung cancer, somatic, 211980 (3)
Noonan syndrome 3, 609942 (3)
Pancreatic carcinoma, somatic, 260350 (3)
RAS-associated autoimmune leukoproliferative disorder, 614470 (3)
Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200 (3)
KRT1 Ichthyosis histrix, Curth-Macklin type, 146590 (3)
Ichthyosis, cyclic, with epidermolytic hyperkeratosis, 607602 (3)
Epidermolytic hyperkeratosis, 113800 (3)
Keratosis palmoplantaris striata III, 607654 (3)
Palmoplantar keratoderma, epidermolytic, 144200 (3)
Palmoplantar keratoderma, nonepidermolytic, 600962 (3)
KRT2 Ichthyosis bullosa of Siemens, 146800 (3)
KRT3 Meesmann corneal dystrophy, 122100 (3)
KRT4 White sponge nevus 1, 193900 (3)
KRT5 Dowling-Degos disease 1, 179850 (3)
Epidermolysis bullosa simplex, Dowling-Meara type, 131760 (3)
Epidermolysis bullosa simplex, Koebner type, 131900 (3)
Epidermolysis bullosa simplex, Weber-Cockayne type, 131800 (3)
Epidermolysis bullosa simplex, recessive 1, 601001 (3)
Epidermolysis bullosa simplex-MCR, 609352 (3)
Epidermolysis bullosa simplex-MP, 131960 (3)
KRT6A Pachyonychia congenita 3, 615726 (3)
KRT6B Pachyonychia congenita 4, 615728 (3)
KRT6C Palmoplantar keratoderma, nonepidermolytic, focal or diffuse, 615735 (3)
KRT71 ?Hypotrichosis 13, 615896 (3)
KRT74 ?Ectodermal dysplasia 7, hair/nail type, 614929 (3)
?Hypotrichosis 3, 613981 (3)
Woolly hair, autosomal dominant, 194300 (3)
KRT75 {Pseudofolliculitis barbae, susceptibility to}, 612318 (3)
KRT8 Cirrhosis, cryptogenic, 215600 (3)
{Cirrhosis, noncryptogenic, susceptibility to}, 215600 (3)
KRT81 Monilethrix, 158000 (3)
KRT83 Erythrokeratodermia variabilis et progressiva 5, 617756 (3)
Monilethrix, 158000 (3)
KRT86 Monilethrix, 158000 (3)
LDHB [Lactate dehydrogenase-B deficiency], 614128 (3)
LEMD3 Buschke-Ollendorff syndrome, 166700 (3)
Osteopoikilosis with or without melorheostosis, 166700 (3)
LIMA1 [Low density lipoprotein cholesterol level QTL 8], 618079 (3)
LRP1 ?Keratosis pilaris atrophicans, 604093 (3)
LRP6 Tooth agenesis, selective, 7, 616724 (3)
{Coronary artery disease, autosomal dominant, 2}, 610947 (3)
LRRK2 {Parkinson disease 8}, 607060 (3)
MGP Keutel syndrome, 245150 (3)
MMAB Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 (3)
MMP19 Cavitary optic disc anomalies, 611543 (3)
MVK Hyper-IgD syndrome, 260920 (3)
Mevalonic aciduria, 610377 (3)
Porokeratosis 3, multiple types, 175900 (3)
MYBPC1 Arthrogryposis, distal, type 1B, 614335 (3)
Lethal congenital contracture syndrome 4, 614915 (3)
NCAPD2 ?Microcephaly 21, primary, autosomal recessive, 617983 (3)
NUP107 Galloway-Mowat syndrome 7, 618348 (3)
Nephrotic syndrome, type 11, 616730 (3)
?Ovarian dysgenesis 6, 618078 (3)
ORAI1 Immunodeficiency 9, 612782 (3)
Myopathy, tubular aggregate, 2, 615883 (3)
OTOGL Deafness, autosomal recessive 84B, 614944 (3)
PAH Phenylketonuria, 261600 (3)
[Hyperphenylalaninemia, non-PKU mild], 261600 (3)
PDE3A Hypertension and brachydactyly syndrome, 112410 (3)
PDE6H Achromatopsia 6, 610024 (3)
Retinal cone dystrophy 3, 610024 (3)
PFKM Glycogen storage disease VII, 232800 (3)
PHC1 ?Microcephaly 11, primary, autosomal recessive, 615414 (3)
PLCZ1 ?Spermatogenic failure 17, 617214 (3)
POLR3B Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 (3)
PRICKLE1 Epilepsy, progressive myoclonic 1B, 612437 (3)
PTPRO Nephrotic syndrome, type 6, 614196 (3)
PTPRQ Deafness, autosomal dominant 73, 617663 (3)
Deafness, autosomal recessive 84A, 613391 (3)
PUS1 Myopathy, lactic acidosis, and sideroblastic anemia 1, 600462 (3)
RDH5 Fundus albipunctatus, 136880 (3)
SCARB1 [High density lipoprotein cholesterol level QTL6], 610762 (3)
SCN8A Cognitive impairment with or without cerebellar ataxia, 614306 (3)
Epileptic encephalopathy, early infantile, 13, 614558 (3)
?Myoclonus, familial, 2, 618364 (3)
Seizures, benign familial infantile, 5, 617080 (3)
SCNN1A Bronchiectasis with or without elevated sweat chloride 2, 613021 (3)
?Liddle syndrome 3, 618126 (3)
Pseudohypoaldosteronism, type I, 264350 (3)
SH2B3 Erythrocytosis, somatic, 133100 (3)
Myelofibrosis, somatic, 254450 (3)
Thrombocythemia, somatic, 187950 (3)
SLC11A2 Anemia, hypochromic microcytic, with iron overload 1, 206100 (3)
SLCO1B1 Hyperbilirubinemia, Rotor type, digenic, 237450 (3)
SLCO1B3 Hyperbilirubinemia, Rotor type, digenic, 237450 (3)
SP7 Osteogenesis imperfecta, type XII, 613849 (3)
SRGAP1 {Thyroid cancer, nonmedullary, 2}, 188470 (3)
SUOX Sulfite oxidase deficiency, 272300 (3)
SYT1 Baker-Gordon syndrome, 618218 (3)
TCTN2 Joubert syndrome 24, 616654 (3)
?Meckel syndrome 8, 613885 (3)
TMTC3 Lissencephaly 8, 617255 (3)
TNFRSF1A {Multiple sclerosis, susceptibility to, 5}, 614810 (3)
Periodic fever, familial, 142680 (3)
TRPV4 Brachyolmia type 3, 113500 (3)
Hereditary motor and sensory neuropathy, type IIc, 606071 (3)
Digital arthropathy-brachydactyly, familial, 606835 (3)
Metatropic dysplasia, 156530 (3)
Parastremmatic dwarfism, 168400 (3)
?Avascular necrosis of femoral head, primary, 2, 617383 (3)
SED, Maroteaux type, 184095 (3)
Scapuloperoneal spinal muscular atrophy, 181405 (3)
Spinal muscular atrophy, distal, congenital nonprogressive, 600175 (3)
Spondylometaphyseal dysplasia, Kozlowski type, 184252 (3)
[Sodium serum level QTL 1], 613508 (3)
TUBA1A Lissencephaly 3, 611603 (3)
UBE3B Kaufman oculocerebrofacial syndrome, 244450 (3)
VAMP1 Myasthenic syndrome, congenital, 25, 618323 (3)
Spastic ataxia 1, autosomal dominant, 108600 (3)
VDR ?Osteoporosis, involutional, 166710 (1)
Rickets, vitamin D-resistant, type IIA, 277440 (3)
VWF von Willebrand disease, type 1, 193400 (3)
von Willebrand disease, types 2A, 2B, 2M, and 2N, 613554 (3)
von Willibrand disease, type 3, 277480 (3)
WDR66 Spermatogenic failure 33, 618152 (3)
WNK1 Neuropathy, hereditary sensory and autonomic, type II, 201300 (3)
Pseudohypoaldosteronism, type IIC, 614492 (3)
WNT10B Split-hand/foot malformation 6, 225300 (3)
Tooth agenesis, selective, 8, 617073 (3)

Genes at Clinical Genomics Database

A2M, AAAS, ABCC9, ACADS, ACVRL1, AICDA, AMHR2, ANKLE2, AQP2, ART4, ASCL1, ATN1, ATP6V0A2, ATXN2, BBS10, BHLHE41, C1S, CACNA1C, CACNA2D4, CCND2, CD27, CD4, CDKN1B, CEP290, CNTN1, COL2A1, CRADD, DDX11, DIP2B, DPY19L2, DUSP6, EMG1, ERBB3, FGD4, GDF3, GNPTAB, GNS, GPD1, GRIN2B, GRIP1, GUCY2C, GYS2, HAL, HNF1A, HOXC13, HPD, IRAK4, ISCU, ITGA7, ITPR2, KCNA1, KCNA5, KERA, KIAA1033, KMT2D, KRAS, KRT1, KRT2, KRT3, KRT4, KRT5, KRT6A, KRT6B, KRT6C, KRT71, KRT74, KRT75, KRT81, KRT83, KRT86, LDHB, LEMD3, LRP1, LRP6, LRRK2, MGP, MMAB, MMP19, MVK, MYBPC1, MYO1A, NUP107, ORAI1, OTOGL, PAH, PDE3A, PDE6H, PFKM, PHC1, POLR3B, PRICKLE1, PTPRO, PTPRQ, PUS1, RDH5, SART3, SCN8A, SCNN1A, SLC11A2, SLCO1B1, SLCO1B3, SP7, SUOX, TCTN2, TNFRSF1A, TRPV4, TUBA1A, UBE3B, VAMP1, VDR, VWF, WNK1, WNT10B,
A2M Alpha-2-macroglobulin deficiency
AAAS Achalasia-addisonianism-alacrimia syndrome
ABCC9 Cardiomyopathy, dilated, 10
Atrial fibrillation, familial 12
Cantu syndrome
ACADS Acyl-CoA dehydrogenase, short-chain, deficiency of
ACVRL1 Hereditary hemorrhagic telangiectasia, type 2
AICDA Immunodeficiency with hyper-IgM, type 2
AMHR2 Persistent Mullerian duct syndrome, type II
ANKLE2 Microcephaly, primary autosomal recessive, 16
AQP2 Diabetes insipidus, nephrogenic, autosomal
ART4 Blood group, Dombrock
ASCL1 Central hypoventilation syndrome, congenital (Haddad syndrome)
ATN1 Dentatorubro-pallidoluysian atrophy
ATP6V0A2 Cutis laxa, autosomal recessive, type IIA
Wrinkly skin syndrome
ATXN2 Spinocerebellar ataxia 2
BBS10 Bardet-Biedl syndrome 10
BHLHE41 Short sleeper
C1S Complement component C1s deficiency
CACNA1C Brugada syndrome 3
Timothy syndrome
CACNA2D4 Retinal cone dystrophy 4
CCND2 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome
CD27 Lymphoproliferative syndrome 2
CD4 OKT4 epitope deficiency
CDKN1B Multiple endocrine neoplasia, type IV
CEP290 Leber congenital amaurosis 10
Meckel syndrome 4
Senior-Loken syndrome 6
Joubert syndrome 5
Bardet-Biedl syndrome 14
CNTN1 Myopathy, congenital, Compton-North
COL2A1 Stickler syndrome, type I
Rhegmatogenous retinal detachment, autosomal dominant
Czech dysplasia
Otospondylomegaepiphyseal dysplasia
Epiphyseal dysplasia, multiple, with myopia and deafness
Avascular necrosis of femoral head, primary
CRADD Mental retardation, autosomal recessive 34
DDX11 Warsaw breakage syndrome
DIP2B Mental retardation, FRA12A type
DPY19L2 Spermatogenic failure 9
Globozoospermia
DUSP6 Hypogonadotropic hypogonadism 19, with or without anosmia
EMG1 Bowen-Conradi syndrome
ERBB3 Lethal congenital contractural syndrome 2
FGD4 Charcot-Marie-Tooth disease, type 4H
GDF3 Microphthalmia, isolated 7
Microphthalmia, isolated, with coloboma 6
Klippel-Feil syndrome 3, autosomal dominant
Coloboma, ocular
GNPTAB Mucolipidosis III alpha/beta (Pseudo-Hurler polydstrophy)
Mucolipidosis II alpha/beta (I-cell disease)
GNS Mucopolysaccharidosis IIID (Sanfilippo syndrome D)
GPD1 Hypertriglyceridemia, transient infantile
GRIN2B Mental retardation, autosomal dominant 6
Epileptic encephalopathy, early infantile 27
GRIP1 Fraser syndrome
GUCY2C Diarrhea 6
Meconium ileus
GYS2 Glycogen storage disease, type 0, liver
HAL Histidinemia
HNF1A Renal cell carcinoma, nonpapillary clear cell
Liver adenomatosis
Maturity onset diabetes of the young, type III
HOXC13 Ectodermal dysplasia 9
HPD Tyrosinemia, type III
Hawksinuria
IRAK4 IRAK4 deficiency
Invasive pneumococcal disease, recurrent, isolated, 1
ISCU Myopathy with lactic acidosis, hereditary
ITGA7 Muscular dystrophy, congenital, due to integrin alpha-7 deficiency
ITPR2 Anhidrosis, isolated, with normal sweat glands (Dann-Epstein-Sohar syndrome)
KCNA1 Episodic ataxia, type 1/myokymia syndrome
KCNA5 Atrial fibrillation, familial, 7
KERA Cornea plana 2, autosomal recessive
KIAA1033 Mental retardation, autosomal recessive 43
KMT2D Kabuki syndrome 1
KRAS Noonan syndrome
Cardiofaciocutaneous syndrome
KRT1 Keratosis palmoplantaris striata III
Ichthyosis, cyclic, with epidermolytic hyperkeratosis
Ichthyosis histrix, Curth-Macklin type
Palmoplantar keratoderma, epidermolytic
Palmoplantar keratoderma, nonepidermolytic
Epidermolytic hyperkeratosis
KRT2 Ichthyosis bullosa of Siemens
Ichthyosis exfoliativa
KRT3 Meesmann corneal dystrophy
KRT4 White sponge nevus 1
KRT5 Epidermolysis bullosa simplex with migratory circinate erythema
Epidermolysis bullosa simplex with mottled pigmentation
Dowling-Degos disease 1
Epidermolysis bullosa simplex, Koebner type
Epidermolysis bullosa simplex, Weber-Cockayne type
Epidermolysis bullosa simplex, Dowling-Meara type
KRT6A Pachyonychia congenita 3
KRT6B Pachyonychia congenita 4
KRT6C Palmoplantar keratoderma, nonepidermolytic, focal or diffuse
KRT71 Hypotrichosis 13
KRT74 Ectodermal dysplasia 7, hair/nail type
Hypotrichosis 3
Woolly hair, autosomal dominant
KRT75 Pseudofolliculitis barbae
KRT81 Monilethrix
KRT83 Monilethrix
KRT86 Monilethrix
LDHB Lactate dehydrogenase B deficiency
LEMD3 Buschke-Ollendorff syndrome
Osteopoikilosis
LRP1 Schizophrenia
LRP6 Coronary artery disease, autosomal dominant 2
LRRK2 Parkinson disease 8
Dementia, Lewy body
MGP Keutel syndrome
MMAB Methylmalonic acidemia, cblB type
MMP19 Cavitary optic disc anomalies
MVK Mevalonic aciduria
Hyper-IgD syndrome
MYBPC1 Arthrogryposis, distal, type 1B
Lethal congenital contractural syndrome 4
MYO1A Deafness, autosomal dominant 48
NUP107 Nephrotic syndrome, type 11
ORAI1 Immunodeficiency 9
OTOGL Deafness, autosomal recessive 84B
PAH Phenylketonuria
Hyperphenylalaninemia, non-PKU mild
PDE3A Hypertension with brachydactyly
PDE6H Achromatopsia 6
Retinal cone dystrophy 3A
PFKM Glycogen storage disease VII
PHC1 Primary microcephaly 11
POLR3B Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism
PRICKLE1 Epilepsy, progressive myoclonic, 1B
PTPRO Nephrotic syndrome, type 6
PTPRQ Deafness, autosomal recessive 84
PUS1 Myopathy, lactic acidosis, and sideroblastic anemia 1
RDH5 Fundus albipunctatus
SART3 Porokeratosis, disseminated superficial actinic, 1
SCN8A Cognitive impairment with or without cerebellar ataxia
Epileptic encephalopathy, early infantile, 13
SCNN1A Pseudohypoaldosteronism, type I
Bronchiectasis with or without elevated sweat chloride 2
SLC11A2 Anemia, hypochromic microcytic, with iron overload
SLCO1B1 Statin-induced myopathy
Hyperbilirubinemia, Rotor type, digenic
SLCO1B3 Hyperbilirubinemia, Rotor type, digenic
SP7 Osteogenesis imperfecta, type XII
SUOX Sulfocysteinuria
TCTN2 Joubert syndrome 24
Meckel syndrome 8
TNFRSF1A Periodic fever, familial (TNF receptor-associated periodic syndrome)
TRPV4 Spinal muscular atrophy, distal, congenital nonprogressive
Brachyolmia type 3
Metatropic dysplasia
Spondyloepiphyseal dysplasia, Maroteaux type
Scapuloperoneal spinal muscular atrophy
Hereditary motor and sensory neuropathy, type Iic
Spondylometaphyseal dysplasia, Kozlowski type
Parastremmatic dwarfism
Digital arthropathy-brachydactyly, familial
TUBA1A Lissencephaly 3
UBE3B Blepharophimosis-Ptosis-Intellectual-Disability syndrome (Kaufman oculocerebrofacial syndrome)
VAMP1 Spastic ataxia 1, autosomal dominant
VDR Vitamin D-dependent rickets, type 2A
VWF von Willebrand disease, type 1
von Willebrand disease, type 2A
von Willebrand disease, type 3
WNK1 Pseudohypoaldosteronism, type IIC
Neuropathy, hereditary sensory and autonomic, type IIA
WNT10B Split-hand/foot malformation 6

Genes at HGMD

Summary

Number of Variants: 6403
Number of Genes: 547

Export to: CSV

A2M

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 galaxy6-vcffilter_3022nr4 12 rs226405
dbSNP Clinvar
9248233 3601.17 T C . 1/1 112 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.99780 0.99780 0.00235 0.91 0.00 None None None None None None A2M|0.10920489|49.36%
View galaxy6-vcffilter_3022nr4 12 rs669
dbSNP Clinvar
9232268 1211.38 T C . 0/1 85 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.25439 0.25440 0.31965 0.34 0.02 None None None None None None A2M|0.10920489|49.36%

A2ML1

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 galaxy6-vcffilter_3022nr4 12 rs1476910
dbSNP Clinvar
9020912 3344.44 A G . 1/1 106 SYNONYMOUS_CODING LOW SILENT 0.67772 0.67770 0.25352 None None None None None None A2ML1|0.011663794|79.48%
View galaxy6-vcffilter_3022nr4 12 rs7308811
dbSNP Clinvar
9020489 3330.71 A G . 1/1 102 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.85264 0.85260 0.22254 0.57 0.00 None None None None None None A2ML1|0.011663794|79.48%
View galaxy6-vcffilter_3022nr4 12 rs10219561
dbSNP Clinvar
9016573 1746.99 A G . 1/1 57 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.96785 0.96790 0.03189 0.54 0.00 None None None None None None A2ML1|0.011663794|79.48%
View galaxy6-vcffilter_3022nr4 12 . 9016562 685.066 GGCC GC . 0/1 66 FRAME_SHIFT HIGH None None None None None None A2ML1|0.011663794|79.48%
View galaxy6-vcffilter_3022nr4 12 rs1860967
dbSNP Clinvar
9013755 1320.14 C T . 0/1 106 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.43231 0.43230 0.30165 0.02 0.60 None None None None None None A2ML1|0.011663794|79.48%
View galaxy6-vcffilter_3022nr4 12 rs11612600
dbSNP Clinvar
9010671 1550.59 G A . 0/1 116 SYNONYMOUS_CODING LOW SILENT 0.25439 0.25440 0.30652 None None None None None None A2ML1|0.011663794|79.48%
View galaxy6-vcffilter_3022nr4 12 rs1558526
dbSNP Clinvar
9009820 1232.88 G A . 0/1 98 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.11122 0.11120 0.18966 0.00 1.00 None None None None None None A2ML1|0.011663794|79.48%
View galaxy6-vcffilter_3022nr4 12 rs1860926
dbSNP Clinvar
9004892 3322.67 C A . 1/1 104 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.96605 0.96610 0.03530 1.00 0.00 None None None None None None A2ML1|0.011663794|79.48%
View galaxy6-vcffilter_3022nr4 12 rs1860927
dbSNP Clinvar
9004512 3886.34 G A . 1/1 122 SYNONYMOUS_CODING LOW SILENT 0.86821 0.86820 0.19218 None None None None None None A2ML1|0.011663794|79.48%

AAAS

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 galaxy6-vcffilter_3022nr4 12 rs1546808
dbSNP Clinvar
53703021 3399.88 G A . 1/1 104 SYNONYMOUS_CODING LOW SILENT 0.91534 0.91530 0.09373 None None None None None None AAAS|0.160423573|41.47%

AACS

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 galaxy6-vcffilter_3022nr4 12 rs7303092
dbSNP Clinvar
125562809 1459.67 G A . 1/1 49 None None None 0.98582 0.98580 0.67 0.00 None None None None None None AACS|0.059537921|60.03%

ABCC9

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 galaxy6-vcffilter_3022nr4 12 rs10770865
dbSNP Clinvar
22063115 3273.78 A G . 1/1 101 SYNONYMOUS_CODING LOW SILENT 0.99720 0.99720 0.00354 None None None None None None ABCC9|0.261420458|30.64%

AC004466.1

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 galaxy6-vcffilter_3022nr4 12 rs3815133
dbSNP Clinvar
48179044 390.603 C G . 0/1 28 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.81869 0.81870 0.85 None None None None None None HDAC7|0.157662345|41.92%

AC005841.1

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 galaxy6-vcffilter_3022nr4 12 rs114304630
dbSNP Clinvar
2958538 1406.58 G A . 0/1 117 SYNONYMOUS_CODING LOW SILENT 0.00779 0.00779 None None None None None None ITFG2|0.042941889|64.82%

AC092850.1

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 galaxy6-vcffilter_3022nr4 12 rs73151964
dbSNP Clinvar
131781552 220.618 C T . 0/1 131 SYNONYMOUS_CODING LOW SILENT None None None None None None None

ACACB

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 galaxy6-vcffilter_3022nr4 12 rs4766516
dbSNP Clinvar
109605730 1211.97 C T . 0/1 114 SYNONYMOUS_CODING LOW SILENT 0.23163 0.23160 0.15708 None None None None None None ACACB|0.108212697|49.54%
View galaxy6-vcffilter_3022nr4 12 rs2075260
dbSNP Clinvar
109696838 4922.93 G A . 1/1 150 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.73882 0.73880 0.21898 1.00 0.00 None None None None None None ACACB|0.108212697|49.54%
View galaxy6-vcffilter_3022nr4 12 rs2241220
dbSNP Clinvar
109675029 3415.4 T C . 1/1 108 SYNONYMOUS_CODING LOW SILENT 0.77915 0.77920 0.19699 None None None None None None ACACB|0.108212697|49.54%
View galaxy6-vcffilter_3022nr4 12 rs2300455
dbSNP Clinvar
109623516 1062.68 G A . 0/1 86 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.15955 0.15950 0.14624 0.04 1.00 None None None None None None ACACB|0.108212697|49.54%
View galaxy6-vcffilter_3022nr4 12 rs11065772
dbSNP Clinvar
109617865 1470.76 T C . 0/1 132 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.67732 0.67730 0.25996 None None None None None None ACACB|0.108212697|49.54%

ACADS

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 galaxy6-vcffilter_3022nr4 12 rs3914
dbSNP Clinvar
121174899 5084.75 T C . 1/1 161 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.59066 0.59070 0.49323 None None None None None None ACADS|0.070436549|57.39%
View galaxy6-vcffilter_3022nr4 12 rs1799958
dbSNP Clinvar
121176083 2094.93 G A . 0/1 159 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE MISSENSE 0.18231 0.18230 0.19683 0.01 0.44 None None None None None None ACADS|0.070436549|57.39%
View galaxy6-vcffilter_3022nr4 12 rs3915
dbSNP Clinvar
121176679 2772.67 C T . 1/1 85 SYNONYMOUS_CODING LOW SILENT 0.67312 0.67310 0.40804 None None None None None None ACADS|0.070436549|57.39%
View galaxy6-vcffilter_3022nr4 12 rs555404
dbSNP Clinvar
121175984 3631.02 T C . 1/1 115 None None None 0.59385 0.59380 0.03 0.00 None None None None None None ACADS|0.070436549|57.39%

ACSM4

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 galaxy6-vcffilter_3022nr4 12 rs7968241
dbSNP Clinvar
7463241 1622.92 A T . 0/1 127 SYNONYMOUS_CODING LOW SILENT 0.32308 0.32310 0.43174 None None None None None None ACSM4|0.022577905|72.89%

ACSS3

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 galaxy6-vcffilter_3022nr4 12 rs1921038
dbSNP Clinvar
81627238 564.238 C T . 0/1 74 SYNONYMOUS_CODING LOW SILENT 0.17692 0.17690 0.18238 None None None None None None ACSS3|0.295131278|28.03%

ACVRL1

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 galaxy6-vcffilter_3022nr4 12 rs706816
dbSNP Clinvar
52312964 242.169 A G . 0/1 38 None None None 0.34325 0.34330 0.03 0.15 None None None None None None ACVRL1|0.108673601|49.42%
View galaxy6-vcffilter_3022nr4 12 rs706815
dbSNP Clinvar
52312944 528.115 T C . 0/1 65 None None None 0.34345 0.34350 0.32493 None None None None None None ACVRL1|0.108673601|49.42%

ADAMTS20

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 galaxy6-vcffilter_3022nr4 12 rs11182088
dbSNP Clinvar
43860526 1681.96 A G . 0/1 133 SYNONYMOUS_CODING LOW SILENT 0.43171 0.43170 0.31244 None None None None None None ADAMTS20|0.033294654|68.04%
View galaxy6-vcffilter_3022nr4 12 rs10880473
dbSNP Clinvar
43769276 669.749 T C . 0/1 77 SYNONYMOUS_CODING LOW SILENT 0.22384 0.22380 0.26257 None None None None None None ADAMTS20|0.033294654|68.04%
View galaxy6-vcffilter_3022nr4 12 rs10506226
dbSNP Clinvar
43769228 743.145 A C . 0/1 73 SYNONYMOUS_CODING LOW SILENT 0.22244 0.22240 0.26150 None None None None None None ADAMTS20|0.033294654|68.04%

AGAP2

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 galaxy6-vcffilter_3022nr4 12 rs17852479
dbSNP Clinvar
58126234 4322.23 C A . 1/1 135 SYNONYMOUS_CODING LOW SILENT 0.21566 0.21570 0.31812 None None None None None None AGAP2|0.196777896|37.07%

AICDA

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 galaxy6-vcffilter_3022nr4 12 rs2028373
dbSNP Clinvar
8757481 2228.0 G A . 1/1 74 SYNONYMOUS_CODING LOW SILENT 0.48423 0.48420 0.45065 None None None None None None AICDA|0.345530644|24.45%

AKAP3

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 galaxy6-vcffilter_3022nr4 12 rs1990312
dbSNP Clinvar
4736495 4150.25 C T . 1/1 131 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.98283 0.98280 0.02299 1.00 0.00 None None None None None None AKAP3|0.022604217|72.88%
View galaxy6-vcffilter_3022nr4 12 rs11063266
dbSNP Clinvar
4736677 3710.29 G C . 1/1 114 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.91154 0.91150 0.05090 0.32 0.00 None None None None None None AKAP3|0.022604217|72.88%
View galaxy6-vcffilter_3022nr4 12 rs11063265
dbSNP Clinvar
4736631 4174.48 A G . 1/1 129 SYNONYMOUS_CODING LOW SILENT 0.98283 0.98280 0.02314 None None None None None None AKAP3|0.022604217|72.88%
View galaxy6-vcffilter_3022nr4 12 rs2072355
dbSNP Clinvar
4737715 1398.28 C T . 1/1 43 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.70547 0.70550 0.26203 1.00 0.00 None None None None None None AKAP3|0.022604217|72.88%
View galaxy6-vcffilter_3022nr4 12 rs2072356
dbSNP Clinvar
4737459 1466.22 C T . 1/1 47 SYNONYMOUS_CODING LOW SILENT 0.70727 0.70730 0.26196 None None None None None None AKAP3|0.022604217|72.88%
View galaxy6-vcffilter_3022nr4 12 rs7960207
dbSNP Clinvar
4737318 1428.02 A G . 1/1 44 SYNONYMOUS_CODING LOW SILENT 0.81749 0.81750 0.12133 None None None None None None AKAP3|0.022604217|72.88%
View galaxy6-vcffilter_3022nr4 12 rs7972737
dbSNP Clinvar
4737042 1648.61 G A . 1/1 52 SYNONYMOUS_CODING LOW SILENT 0.28455 0.28450 0.37567 None None None None None None AKAP3|0.022604217|72.88%
View galaxy6-vcffilter_3022nr4 12 rs10774251
dbSNP Clinvar
4736690 3661.34 A G . 1/1 113 SYNONYMOUS_CODING LOW SILENT 0.97264 0.97260 0.03283 None None None None None None AKAP3|0.022604217|72.88%

ALG10B

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 galaxy6-vcffilter_3022nr4 12 rs35518352
dbSNP Clinvar
38715000 1324.5 A G . 1/1 63 SYNONYMOUS_CODING LOW SILENT 0.25140 0.25140 0.35336 None None None None None None ALG10B|0.041656471|65.23%
View galaxy6-vcffilter_3022nr4 12 rs6582584
dbSNP Clinvar
38712142 464.197 C G . 1/1 78 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.96665 0.96670 0.03383 1.00 0.00 None None None None None None ALG10B|0.041656471|65.23%

AMDHD1

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 galaxy6-vcffilter_3022nr4 12 . 96361514 360.312 GT... GT... . 0/1 48 None None None None None None None None None AMDHD1|0.4419198|18.57%
View galaxy6-vcffilter_3022nr4 12 rs7955450
dbSNP Clinvar
96337183 1658.84 A G . 0/1 142 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.71845 0.71850 0.56 0.00 None None None None None None AMDHD1|0.4419198|18.57%

AMHR2

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 galaxy6-vcffilter_3022nr4 12 rs784890
dbSNP Clinvar
53823307 1905.62 G A . 0/1 153 SYNONYMOUS_CODING LOW SILENT 0.15176 0.15180 0.16108 None None None None None None AMHR2|0.236725027|32.73%

AMIGO2

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 galaxy6-vcffilter_3022nr4 12 rs11836128
dbSNP Clinvar
47471304 1290.37 C T . 0/1 121 SYNONYMOUS_CODING LOW SILENT 0.02077 0.02077 0.02045 None None None None None None AMIGO2|0.036937245|66.81%
View galaxy6-vcffilter_3022nr4 12 rs35667451
dbSNP Clinvar
47472693 1174.64 C T . 0/1 120 SYNONYMOUS_CODING LOW SILENT 0.04792 0.04792 0.05021 None None None None None None AMIGO2|0.036937245|66.81%

ANHX

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 galaxy6-vcffilter_3022nr4 12 rs147259575
dbSNP Clinvar
133808129 1676.54 C T . 0/1 125 SYNONYMOUS_CODING LOW SILENT 0.12820 0.12820 None None None None None None ANHX|0.002701855|89.23%
View galaxy6-vcffilter_3022nr4 12 rs36146434
dbSNP Clinvar
133803551 1325.95 G C . 0/1 129 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.12919 0.12920 0.17 0.54 None None None None None None ANHX|0.002701855|89.23%
View galaxy6-vcffilter_3022nr4 12 rs141475940
dbSNP Clinvar
133810703 1284.6 G C . 0/1 85 SYNONYMOUS_CODING LOW SILENT 0.12999 0.13000 None None None None None None ANHX|0.002701855|89.23%

ANKLE2

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 galaxy6-vcffilter_3022nr4 12 rs1132375
dbSNP Clinvar
133331537 4481.84 G A . 1/1 143 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.26038 0.26040 0.30305 0.04 0.13 None None None None None None ANKLE2|0.0109485|80.11%
View galaxy6-vcffilter_3022nr4 12 rs10781634
dbSNP Clinvar
133306589 2939.16 C T . 1/1 92 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.24720 0.24720 0.31189 0.16 0.24 None None None None None None ANKLE2|0.0109485|80.11%

ANKRD13A

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 galaxy6-vcffilter_3022nr4 12 rs2302689
dbSNP Clinvar
110456175 825.126 A G . 0/1 59 SYNONYMOUS_CODING LOW SILENT 0.31150 0.31150 0.31140 None None None None None None ANKRD13A|0.173001404|39.94%

ANKRD33

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 galaxy6-vcffilter_3022nr4 12 rs697634
dbSNP Clinvar
52282060 1878.24 C T . 0/1 153 SYNONYMOUS_CODING LOW SILENT 0.33167 0.33170 0.25811 None None None None None None ANKRD33|0.021337609|73.52%

ANKRD52

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 galaxy6-vcffilter_3022nr4 12 rs808919
dbSNP Clinvar
56647911 1642.31 G C . 1/1 52 SYNONYMOUS_CODING LOW SILENT 0.80471 0.80470 0.20446 None None None None None None ANKRD52|0.243975122|32.09%
View galaxy6-vcffilter_3022nr4 12 rs1274490
dbSNP Clinvar
56649601 3923.11 A G . 1/1 125 SYNONYMOUS_CODING LOW SILENT 0.80631 0.80630 0.20515 None None None None None None ANKRD52|0.243975122|32.09%

ANO2

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 galaxy6-vcffilter_3022nr4 12 rs2277398
dbSNP Clinvar
5674754 4298.46 G A . 1/1 137 SYNONYMOUS_CODING LOW SILENT 0.34225 0.34230 0.39520 None None None None None None ANO2|0.232649133|33.14%
View galaxy6-vcffilter_3022nr4 12 rs3741904
dbSNP Clinvar
6030437 1753.65 A G . 0/1 137 SYNONYMOUS_CODING LOW SILENT 0.09465 0.09465 0.04787 None None None None None None ANO2|0.232649133|33.14%
View galaxy6-vcffilter_3022nr4 12 rs3741903
dbSNP Clinvar
6030405 5061.6 A G . 1/1 155 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.15655 0.15650 0.16016 0.91 0.00 None None None None None None ANO2|0.232649133|33.14%
View galaxy6-vcffilter_3022nr4 12 rs3741902
dbSNP Clinvar
6030302 5177.2 T C . 1/1 161 SYNONYMOUS_CODING LOW SILENT 0.14736 0.14740 0.16035 None None None None None None ANO2|0.232649133|33.14%

ANO4

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 galaxy6-vcffilter_3022nr4 12 rs1055734
dbSNP Clinvar
101520689 1389.29 A G . 0/1 124 SYNONYMOUS_CODING LOW SILENT 0.14717 0.14720 0.13732 None None None None None None ANO4|0.60629619|11.58%

APOBEC1

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 galaxy6-vcffilter_3022nr4 12 rs2302515
dbSNP Clinvar
7805236 4352.35 C G . 1/1 136 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.65915 0.65910 0.22128 0.46 0.00 None None None None None None APOBEC1|0.005430298|85.3%

APPL2

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 galaxy6-vcffilter_3022nr4 12 rs935241
dbSNP Clinvar
105568122 816.208 G A . 0/1 91 SYNONYMOUS_CODING LOW SILENT 0.93411 0.93410 0.13778 None None None None None None APPL2|0.118101014|47.72%
View galaxy6-vcffilter_3022nr4 12 rs935240
dbSNP Clinvar
105568176 1316.43 G A . 0/1 103 SYNONYMOUS_CODING LOW SILENT 0.93411 0.93410 0.13778 None None None None None None APPL2|0.118101014|47.72%

AQP2

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 galaxy6-vcffilter_3022nr4 12 rs426496
dbSNP Clinvar
50348078 1958.41 T C . 0/1 135 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH 0.66713 0.66710 0.30671 None None None None None None AQP2|0.155383896|42.24%

ARF3

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 galaxy6-vcffilter_3022nr4 12 rs12122
dbSNP Clinvar
49334762 3740.99 G C . 1/1 117 SYNONYMOUS_CODING LOW SILENT 0.92312 0.92310 0.09227 None None None None None None ARF3|0.720861562|7.96%

ARHGAP9

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 galaxy6-vcffilter_3022nr4 12 rs3825080
dbSNP Clinvar
57871555 391.426 A G . 1/1 14 None None None 0.61082 0.61080 0.02 0.00 None None None None None None ARHGAP9|0.04826806|63.22%,MARS|0.751967574|7.05%
View galaxy6-vcffilter_3022nr4 12 rs11544238
dbSNP Clinvar
57870155 2016.24 A C . 1/1 62 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.37021 0.37020 0.48939 0.20 0.00 None None None None None None ARHGAP9|0.04826806|63.22%,MARS|0.751967574|7.05%
View galaxy6-vcffilter_3022nr4 12 rs2277315
dbSNP Clinvar
57869582 5734.59 T C . 1/1 178 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.59066 0.59070 0.28836 0.47 0.00 None None None None None None ARHGAP9|0.04826806|63.22%,MARS|0.751967574|7.05%

ARHGDIB

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 galaxy6-vcffilter_3022nr4 12 rs2430711
dbSNP Clinvar
15103605 3029.99 A G . 1/1 94 SYNONYMOUS_CODING LOW SILENT 1.00000 1.00000 0.00008 None None None None None None ARHGDIB|0.131635037|45.66%
View galaxy6-vcffilter_3022nr4 12 rs4703
dbSNP Clinvar
15095558 1710.44 C G . 0/1 141 SYNONYMOUS_CODING LOW SILENT 0.48183 0.48180 0.49439 None None None None None None ARHGDIB|0.131635037|45.66%

ARID2

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 galaxy6-vcffilter_3022nr4 12 rs73292513
dbSNP Clinvar
46205255 1977.09 A C . 0/1 175 SYNONYMOUS_CODING LOW SILENT 0.00639 0.00639 0.00607 None None None None None None ARID2|0.622938783|11.02%

ARL6IP4

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 galaxy6-vcffilter_3022nr4 12 rs74758272
dbSNP Clinvar
123466304 2245.16 A G . 0/1 185 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.10903 0.10900 0.10313 0.17 0.17 None None None None None None ARL6IP4|0.075666696|56.14%

ART4

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 galaxy6-vcffilter_3022nr4 12 rs3088189
dbSNP Clinvar
14993608 1168.98 G A . 0/1 106 SYNONYMOUS_CODING LOW SILENT 0.29273 0.29270 0.35591 None None None None None None C12orf60|0.003562818|87.67%,ART4|0.006462191|84.1%
View galaxy6-vcffilter_3022nr4 12 rs11276
dbSNP Clinvar
14993439 909.557 C T . 0/1 88 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.29273 0.29270 0.35599 1.00 0.00 None None None None None None C12orf60|0.003562818|87.67%,ART4|0.006462191|84.1%
View galaxy6-vcffilter_3022nr4 12 rs1861698
dbSNP Clinvar
14993854 1254.73 A G . 0/1 107 SYNONYMOUS_CODING LOW SILENT 0.25619 0.25620 0.34284 None None None None None None C12orf60|0.003562818|87.67%,ART4|0.006462191|84.1%

ASCL1

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 galaxy6-vcffilter_3022nr4 12 . 103352171 2266.09 CG... CG... . 1/2 180 CODON_INSERTION MODERATE None None None None None None PAH|0.397123463|20.97%,ASCL1|0.898371145|3.46%

ASIC1

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 galaxy6-vcffilter_3022nr4 12 rs653576
dbSNP Clinvar
50452708 6423.21 C G . 1/1 200 SYNONYMOUS_CODING LOW SILENT 0.92752 0.92750 0.03721 None None None None None None ASIC1|0.372226278|22.59%
View galaxy6-vcffilter_3022nr4 12 rs706792
dbSNP Clinvar
50467644 5130.7 G T . 1/1 158 None None None 0.22844 0.22840 0.12 0.70 None None None None None None ASIC1|0.372226278|22.59%
View galaxy6-vcffilter_3022nr4 12 rs706793
dbSNP Clinvar
50467769 3305.38 G A . 1/1 103 None None None 0.22804 0.22800 None None None None None None ASIC1|0.372226278|22.59%

ASUN

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 galaxy6-vcffilter_3022nr4 12 rs3210635
dbSNP Clinvar
27064232 915.022 C T . 0/1 85 SYNONYMOUS_CODING LOW SILENT 0.57927 0.57930 0.48731 None None None None None None ASUN|0.615904164|11.26%

ATF1

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 galaxy6-vcffilter_3022nr4 12 rs1129406
dbSNP Clinvar
51203371 998.893 C T . 0/1 83 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.39337 0.39340 0.44687 None None None None None None ATF1|0.419687385|19.6%
View galaxy6-vcffilter_3022nr4 12 rs139861411
dbSNP Clinvar
51207850 1400.5 A G . 0/1 132 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.00200 0.00200 0.00192 0.04 0.40 None None None None None None ATF1|0.419687385|19.6%

ATF7IP

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 galaxy6-vcffilter_3022nr4 12 rs61754407
dbSNP Clinvar
14613700 1274.42 A G . 0/1 83 SYNONYMOUS_CODING LOW SILENT 0.02656 0.02656 0.00946 None None None None None None ATF7IP|0.114905203|48.34%
View galaxy6-vcffilter_3022nr4 12 rs2231909
dbSNP Clinvar
14577892 1030.76 A T . 0/1 66 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.32129 0.32130 0.30778 0.12 0.00 None None None None None None ATF7IP|0.114905203|48.34%
View galaxy6-vcffilter_3022nr4 12 . 14599904 476.931 CT... CT... . 1/2 54 None None None None None None None None None ATF7IP|0.114905203|48.34%

ATN1

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 galaxy6-vcffilter_3022nr4 12 rs7969685
dbSNP Clinvar
7047143 1565.8 C A . 0/1 128 SYNONYMOUS_CODING LOW SILENT 0.16254 0.16250 0.26462 None None None None None None ATN1|0.702926343|8.41%
View galaxy6-vcffilter_3022nr4 12 . 7045891 2117.86 AC... AC... . 1/2 103 CODON_CHANGE_PLUS_CODON_DELETION MODERATE None None None None None None ATN1|0.702926343|8.41%
View galaxy6-vcffilter_3022nr4 12 rs11547602
dbSNP Clinvar
7046077 1975.57 G A . 0/1 170 SYNONYMOUS_CODING LOW SILENT 0.01138 0.01138 0.03122 None None None None None None ATN1|0.702926343|8.41%

ATP6V0A2

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 galaxy6-vcffilter_3022nr4 12 rs1399961
dbSNP Clinvar
124210782 3240.51 T C . 1/1 102 SYNONYMOUS_CODING LOW SILENT 0.74980 0.74980 0.36014 None None None None None None ATP6V0A2|0.124260234|46.77%
View galaxy6-vcffilter_3022nr4 12 rs1139789
dbSNP Clinvar
124209332 2002.1 T C . 1/1 64 SYNONYMOUS_CODING LOW SILENT 0.75100 0.75100 0.35338 None None None None None None ATP6V0A2|0.124260234|46.77%
View galaxy6-vcffilter_3022nr4 12 rs7135542
dbSNP Clinvar
124229429 3163.01 T C . 1/1 100 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW SILENT 0.79952 0.79950 0.30463 None None None None None None ATP6V0A2|0.124260234|46.77%

ATXN2

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 galaxy6-vcffilter_3022nr4 12 rs695872
dbSNP Clinvar
112036929 1806.16 G A . 0/1 151 SYNONYMOUS_CODING LOW SILENT 0.44429 0.44430 None None None None None None ATXN2|0.872313714|4.16%
View galaxy6-vcffilter_3022nr4 12 rs4098854
dbSNP Clinvar
112036797 3125.06 C T . 0/1 277 SYNONYMOUS_CODING LOW SILENT 0.65675 0.65670 None None None None None None ATXN2|0.872313714|4.16%
View galaxy6-vcffilter_3022nr4 12 . 112036753 4592.85 GG... GG... . 1/1 203 CODON_DELETION MODERATE None None None None None None ATXN2|0.872313714|4.16%
View galaxy6-vcffilter_3022nr4 12 rs695871
dbSNP Clinvar
112037000 1250.33 G C . 0/1 107 NON_SYNONYMOUS_CODING MODERATE MISSENSE 0.44429 0.44430 0.41 0.00 None None None None None None ATXN2|0.872313714|4.16%

ATXN7L3B

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 galaxy6-vcffilter_3022nr4 12 rs590352
dbSNP Clinvar
74932159 2679.33 G C . 1/1 85 SYNONYMOUS_CODING LOW SILENT 0.66933 0.66930 0.37976 None None None None None None ATXN7L3B|0.065423029|58.5%