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Genes:
A2M, A2ML1, AAAS, AACS, ABCC9, ABCD2, AC068987.1, AC092850.1, ACACB, ACAD10, ACADS, ADAMTS20, ADCY6, ADIPOR2, AGAP2, AICDA, AKAP3, ALG10B, AMDHD1, AMIGO2, ANHX, ANKLE2, ANKRD33, ANKRD52, ANKS1B, ANO2, ANO4, APOBEC1, APOLD1, AQP2, ARF3, ARHGAP9, ARHGDIB, ARHGEF25, ARNTL2, ART4, ASCL1, ASCL4, ASIC1, ASUN, ATF1, ATF7IP, ATN1, ATP2B1, ATP5G2, ATP6V0A2, ATXN2, ATXN7L3B, AVIL, AVPR1A, B3GNT4, B4GALNT3, BCL2L14, BEST3, BIN2, BTBD11, C12orf10, C12orf29, C12orf4, C12orf42, C12orf43, C12orf44, C12orf5, C12orf54, C12orf55, C12orf56, C12orf60, C12orf66, C12orf68, C12orf71, C12orf77, C12orf79, C1R, C1RL, C1S, C2CD5, CABP1, CACNA1C, CACNA2D4, CACNB3, CAMKK2, CAND1, CAPRIN2, CASC1, CCDC38, CCDC41, CCDC59, CCDC60, CCDC77, CCDC91, CCDC92, CCND2, CCNT1, CD163, CD163L1, CD27, CD4, CDK2, CELA1, CEP290, CERS5, CHD4, CHFR, CIT, CLEC12A, CLEC12B, CLEC1A, CLEC1B, CLEC2A, CLEC2D, CLEC4A, CLEC4C, CLEC7A, CLEC9A, CLIP1, CLLU1, CLSTN3, CMKLR1, CNTN1, COL2A1, COPS7A, COQ5, CPM, CPSF6, CRADD, CRY1, CSRP2, CTDSP2, CUX2, DAZAP2, DCD, DCP1B, DDN, DDX11, DDX23, DDX51, DDX55, DENND5B, DGKA, DHX37, DIP2B, DNAH10, DNAH10OS, DNM1L, DPPA3, DPY19L2, DTX3, DUSP6, DYRK2, DYRK4, E2F7, EEA1, EFCAB4B, EIF2S3L, EIF4B, EMG1, ERBB3, ERP27, ESPL1, ETV6, FAM109A, FAM186A, FAM90A1, FAR2, FBRSL1, FBXW8, FGD4, FGD6, FGF23, FGF6, FOXM1, FOXN4, FRS2, FZD10, GALNT4, GALNT8, GALNT9, GAS2L3, GCN1L1, GLI1, GLIPR1, GNB3, GNS, GOLGA3, GPD1, GPR133, GPR162, GPR19, GPRC5A, GPRC5D, GRIN2B, GRIP1, GSG1, GTF2H3, GUCY2C, GXYLT1, GYS2, H1FNT, H3F3C, HAL, HCAR3, HDAC7, HECTD4, HELB, HIP1R, HNF1A, HOXC11, HOXC9, HPD, HSP90B1, IFLTD1, IKBIP, IPO8, IQSEC3, IRAK3, ISCU, ITGA5, ITGA7, ITPR2, KANSL2, KCNA1, KCNA5, KCNH3, KCTD10, KDM5A, KERA, KIAA1033, KIAA1467, KIAA1551, KLRB1, KLRC1, KLRC2, KLRC3, KLRC4, KLRD1, KLRF1, KLRF2, KLRG1, KLRK1, KMT2D, KNTC1, KRAS, KRR1, KRT1, KRT2, KRT3, KRT4, KRT6A, KRT6B, KRT6C, KRT7, KRT71, KRT72, KRT74, KRT75, KRT76, KRT77, KRT78, KRT79, KRT8, KRT80, KRT81, KRT82, KRT83, KRT84, KRT86, KSR2, LAG3, LDHB, LEPREL2, LETMD1, LGR5, LPAR5, LRMP, LRP1, LRP6, LRRC23, LRRC43, LRRK2, LTBR, MAGOHB, MANSC1, MANSC4, MARCH9, MDM1, MED13L, MED21, METTL25, MFSD5, MGP, MLF2, MLXIP, MMAB, MMP17, MMP19, MON2, MORN3, MPHOSPH9, MUC19, MUCL1, MVK, MYBPC1, MYO1H, MYRFL, NABP2, NACA, NANOG, NAP1L1, NAV3, NCKAP1L, NCOR2, NELL2, NOS1, NT5DC3, NTF3, NTN4, NUAK1, NXPH4, OASL, OGFOD2, OR10AD1, OR10P1, OR6C1, OR6C4, OR6C6, OR6C65, OR6C68, OR6C70, OR6C76, OR8S1, ORAI1, OS9, OTOGL, OVCH1, OVCH1-AS1, P2RX2, P2RX4, P2RX7, PAH, PAN2, PARPBP, PAWR, PDE1B, PDE3A, PDZRN4, PFKM, PHB2, PHC1, PHLDA1, PIK3C2G, PIP4K2C, PLA2G1B, PLBD1, PLBD2, PLCZ1, PLEKHG6, PLEKHG7, PLXNC1, PMEL, POLE, POLR3B, POP5, PPFIA2, PPFIBP1, PPHLN1, PPP1R1A, PPTC7, PRB1, PRB2, PRB4, PRH1, PRH2, PRICKLE1, PRIM1, PRMT8, PRR4, PSMD9, PTPN6, PTPRB, PTPRO, PTPRQ, PTPRR, PWP1, PXMP2, PXN, PZP, R3HDM2, RAPGEF3, RASAL1, RBM19, RBMS2, RBP5, REP15, RERG, RERGL, RFX4, RHOF, RILPL1, RIMBP2, RIMKLB, RNFT2, RP1-228P16.5, RP11-1105G2.3, RP11-181C3.1, RPAP3, SART3, SBNO1, SCAF11, SCARB1, SCN8A, SCNN1A, SCYL2, SENP1, SETD1B, SETD8, SFSWAP, SH2B3, SLC11A2, SLC15A4, SLC15A5, SLC26A10, SLC2A14, SLC38A2, SLC38A4, SLC5A8, SLC6A12, SLC6A13, SLC8B1, SLCO1A2, SLCO1B1, SLCO1B3, SLCO1B7, SLCO1C1, SMCO2, SMCO3, SOAT2, SP7, SPRYD4, SRGAP1, SSH1, SSPN, ST8SIA1, STAB2, STK38L, STX2, STYK1, SUOX, SYT1, SYT10, TAOK3, TAPBPL, TAS2R10, TAS2R14, TAS2R19, TAS2R20, TAS2R30, TAS2R31, TAS2R42, TAS2R43, TAS2R46, TAS2R50, TAS2R8, TAS2R9, TBC1D15, TBK1, TCP11L2, TCTN2, TDG, TENC1, TESPA1, TIMELESS, TMCC3, TMED2, TMEM106C, TMEM132B, TMEM132C, TMEM132D, TMEM19, TMEM233, TMEM52B, TMPRSS12, TMTC1, TMTC3, TNFRSF1A, TPH2, TRPV4, TSPAN11, TSPAN9, TUBA1C, TXNRD1, UBC, UBE3B, UHRF1BP1L, ULK1, USP15, USP30, USP5, UTP20, VAMP1, VDR, VEZT, VSIG10, VWF, WDR66, WIBG, WIF1, WNK1, YARS2, ZDHHC17, ZFC3H1, ZNF140, ZNF26, ZNF268, ZNF384, ZNF705A, ZNF84,

+ Genes associated with diseases 124

Genes at Omim

A2M, A2ML1, AAAS, ABCC9, ACADS, ADCY6, AICDA, ALG10B, ANKLE2, AQP2, ART4, ASCL1, ATN1, ATP6V0A2, ATXN2, C12orf4, C1R, C1S, CACNA1C, CACNA2D4, CCND2, CD27, CD4, CEP290, CHD4, CIT, CLEC1A, CLEC7A, CNTN1, COL2A1, CRADD, CRY1, CUX2, DDX11, DIP2B, DNM1L, DPY19L2, DUSP6, EMG1, ERBB3, ETV6, FGD4, FGF23, GLI1, GNB3, GNS, GPD1, GRIN2B, GRIP1, GUCY2C, GYS2, HAL, HNF1A, HPD, IRAK3, ISCU, ITGA7, ITPR2, KCNA1, KCNA5, KERA, KMT2D, KRAS, KRT1, KRT2, KRT3, KRT4, KRT6A, KRT6B, KRT6C, KRT71, KRT74, KRT75, KRT8, KRT81, KRT83, KRT86, LDHB, LRP1, LRP6, LRRK2, MED13L, MGP, MMAB, MMP19, MVK, MYBPC1, ORAI1, OTOGL, P2RX2, PAH, PDE3A, PFKM, PHC1, PLCZ1, POLE, POLR3B, PRICKLE1, PTPRO, PTPRQ, SCARB1, SCN8A, SCNN1A, SH2B3, SLC11A2, SLCO1B1, SLCO1B3, SP7, SRGAP1, SUOX, SYT1, TBK1, TCTN2, TMTC3, TNFRSF1A, TPH2, TRPV4, UBE3B, VAMP1, VDR, VWF, WDR66, WNK1, YARS2,

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)
ADCY6	?Lethal congenital contracture syndrome 8, 616287 (3)
AICDA	Immunodeficiency with hyper-IgM, type 2, 605258 (3)
ALG10B	{Long QT syndrome, acquired, reduced susceptibility to}, 613688 (3)
ANKLE2	?Microcephaly 16, primary, autosomal recessive, 616681 (3)
AQP2	Diabetes insipidus, nephrogenic, 125800 (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)
C12orf4	Mental retardation, autosomal recessive 66, 618221 (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)
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)
CHD4	Sifrim-Hitz-Weiss syndrome, 617159 (3)
CIT	Microcephaly 17, primary, autosomal recessive, 617090 (3)
CLEC1A	{Aspergillosis, susceptibility to}, 614079 (3)
CLEC7A	Candidiasis, familial, 4, autosomal recessive, 613108 (3) {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)
DNM1L	Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388 (3) Optic atrophy 5, 610708 (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)
ETV6	Leukemia, acute myeloid, somatic, 601626 (3) Thrombocytopenia 5, 616216 (3)
FGD4	Charcot-Marie-Tooth disease, type 4H, 609311 (3)
FGF23	Hypophosphatemic rickets, autosomal dominant, 193100 (3) Osteomalacia, tumor-induced (1) Tumoral calcinosis, hyperphosphatemic, familial, 2, 617993 (3)
GLI1	Polydactyly, postaxial, type A8, 618123 (3)
GNB3	{Hypertension, essential, susceptibility to}, 145500 (3) Night blindness, congenital stationary, type 1H, 617024 (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)
HPD	Hawkinsinuria, 140350 (3) Tyrosinemia, type III, 276710 (3)
IRAK3	{Asthma susceptibility 5}, 611064 (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)
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)
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)
MED13L	Mental retardation and distinctive facial features with or without cardiac defects, 616789 (3) Transposition of the great arteries, dextro-looped 1, 608808 (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)
ORAI1	Immunodeficiency 9, 612782 (3) Myopathy, tubular aggregate, 2, 615883 (3)
OTOGL	Deafness, autosomal recessive 84B, 614944 (3)
P2RX2	Deafness, autosomal dominant 41, 608224 (3)
PAH	Phenylketonuria, 261600 (3) [Hyperphenylalaninemia, non-PKU mild], 261600 (3)
PDE3A	Hypertension and brachydactyly syndrome, 112410 (3)
PFKM	Glycogen storage disease VII, 232800 (3)
PHC1	?Microcephaly 11, primary, autosomal recessive, 615414 (3)
PLCZ1	?Spermatogenic failure 17, 617214 (3)
POLE	IMAGE-I syndrome, 618336 (3) FILS syndrome, 615139 (3) {Colorectal cancer, susceptibility to, 12}, 615083 (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)
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)
TBK1	Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, 616439 (3) {Encephalopathy, acute, infection-induced (herpes-specific), susceptibility to, 8}, 617900 (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)
TPH2	{Unipolar depression, susceptibility to}, 608516 (3) {Attention deficit-hyperactivity disorder, susceptibility to, 7}, 613003 (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)
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)
YARS2	Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 (3)

Genes at Clinical Genomics Database

A2M, AAAS, ABCC9, ACADS, ADCY6, AICDA, ANKLE2, AQP2, ART4, ASCL1, ATN1, ATP6V0A2, ATXN2, C1S, CACNA1C, CACNA2D4, CCND2, CD27, CD4, CEP290, CHD4, CLEC7A, CNTN1, COL2A1, CRADD, DDX11, DIP2B, DNM1L, DPY19L2, DUSP6, EMG1, ERBB3, ETV6, FGD4, FGF23, GNS, GPD1, GRIN2B, GRIP1, GUCY2C, GYS2, HAL, HNF1A, HPD, ISCU, ITGA7, ITPR2, KCNA1, KCNA5, KERA, KIAA1033, KMT2D, KRAS, KRT1, KRT2, KRT3, KRT4, KRT6A, KRT6B, KRT6C, KRT71, KRT74, KRT75, KRT81, KRT83, KRT86, LDHB, LRP1, LRP6, LRRK2, MED13L, MGP, MMAB, MMP19, MVK, MYBPC1, ORAI1, OTOGL, P2RX2, PAH, PDE3A, PFKM, PHC1, POLE, POLR3B, PRICKLE1, PTPRO, PTPRQ, SART3, SCN8A, SCNN1A, SLC11A2, SLCO1B1, SLCO1B3, SP7, SUOX, TBK1, TCTN2, TNFRSF1A, TRPV4, UBE3B, VAMP1, VDR, VWF, WNK1, YARS2,

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
ADCY6	Lethal congenital contracture syndrome 8
AICDA	Immunodeficiency with hyper-IgM, type 2
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
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
CEP290	Leber congenital amaurosis 10 Meckel syndrome 4 Senior-Loken syndrome 6 Joubert syndrome 5 Bardet-Biedl syndrome 14
CHD4	Schizophrenia
CLEC7A	Candidiasis, familial, 4
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
DNM1L	Encephalopathy, lethal, due to defective mitochondrial and peroxisomal fission
DPY19L2	Spermatogenic failure 9 Globozoospermia
DUSP6	Hypogonadotropic hypogonadism 19, with or without anosmia
EMG1	Bowen-Conradi syndrome
ERBB3	Lethal congenital contractural syndrome 2
ETV6	Thrombocytopenia 5
FGD4	Charcot-Marie-Tooth disease, type 4H
FGF23	Hypophosphatemic rickets, autosomal dominant Tumoral calcinosis, hyperphosphatemic
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
HPD	Tyrosinemia, type III Hawksinuria
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
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
LRP1	Schizophrenia
LRP6	Coronary artery disease, autosomal dominant 2
LRRK2	Parkinson disease 8 Dementia, Lewy body
MED13L	Transposition of the great arteries, dextro-looped 1 Mental retardation and distinctive facial features with or without cardiac defects Congenital heart defects and intellectual disability Intellectual disability, autosomal recessive
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
ORAI1	Immunodeficiency 9
OTOGL	Deafness, autosomal recessive 84B
P2RX2	Deafness, autosomal dominant 41
PAH	Phenylketonuria Hyperphenylalaninemia, non-PKU mild
PDE3A	Hypertension with brachydactyly
PFKM	Glycogen storage disease VII
PHC1	Primary microcephaly 11
POLE	Colorectal cancer, susceptibility to, 12 Facial dysmorphism, immunodeficiency, livedo, and short stature syndrome (FILS syndrome)
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
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
TBK1	Herpes simplex encephalitis
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
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
YARS2	Myopathy, lactic acidosis, and sideroblastic anemia 2

Genes at HGMD

Summary

Number of Variants: 8622
Number of Genes: 516

Export to: CSV

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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	combined sample_70.variant31	12	rs756504114 dbSNP Clinvar	48490243	30.6	AT	A	PASS	0/1	26	None	None	None							None None	None None None None	SENP1\|0.486283776\|16.49%
GXYLT1
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	combined sample_70.variant31	12	rs79044728 dbSNP Clinvar	42499690	30.68	T	C	PASS	0/1	146	NON_SYNONYMOUS_CODING	MODERATE	None				0.00	0.99		None None	None None None None	GXYLT1\|0.137586291\|44.77%
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	combined sample_70.variant31	12	.	50500246	30.75	T	A	PASS	0/1	136	None	None	None							None None	None None None None	GPD1\|0.247841281\|31.74%
	View	combined sample_70.variant31	12	rs180708632 dbSNP Clinvar	7341730	30.97	G	A	PASS	0/1	7	None	None	None	0.00559	0.00559					None None	None None None None	PEX5\|0.13476533\|45.13%
	View	combined sample_70.variant31	12	rs932296401 dbSNP Clinvar	57978895	31.27	CT	C	DRAGENHardINDEL	0/1	25	None	None	None							None None	None None None None	KIF5A\|0.39399359\|21.13%
	View	combined sample_70.variant31	12	rs534908506,rs553006039 dbSNP Clinvar	32905674	31.37	CA...	CA...	PASS	0/4	20	None	None	None	0.18790	0.18790					None None	None None None None	YARS2\|0.136133815\|44.97%
	View	combined sample_70.variant31	12	rs1796330 dbSNP Clinvar	71522953	31.46	G	C	PASS	1/1	7	None	None	None	0.39776	0.39780					None None	None None None None	TSPAN8\|0.020855803\|73.73%
	View	combined sample_70.variant31	12	rs1014188 dbSNP Clinvar	123106893	31.47	G	A	PASS	0/1	11	None	None	None	0.05272	0.05272					None None	None None None None	KNTC1\|0.761104092\|6.81%,HCAR1\|0.027013513\|70.87%
	View	combined sample_70.variant31	12	.	11244926	31.51	C	G	PASS	0/1	17	None	None	None							None None	None None None None	PRR4\|0.000493683\|98.46%,TAS2R14\|0.00022192\|99.72%
	View	combined sample_70.variant31	12	rs11107606 dbSNP Clinvar	94964365	31.65	T	C	PASS	0/1	13	None	None	None	0.29393	0.29390					None None	None None None None	TMCC3\|0.135264104\|45.07%
	View	combined sample_70.variant31	12	.	122216356	31.68	CAAA	CA...	PASS	1/1	8	None	None	None							None None	None None None None	TMEM120B\|0.205561221\|36.06%,RHOF\|0.097580213\|51.6%
	View	combined sample_70.variant31	12	rs16928089 dbSNP Clinvar	24985557	31.7	T	A	PASS	0/1	6	None	None	None	0.14976	0.14980					None None	None None None None	BCAT1\|0.134347415\|45.22%
	View	combined sample_70.variant31	12	.	7079062	31.91	CA	C	DRAGENHardINDEL	0/1	49	None	None	None							None None	None None None None	EMG1\|0.122491052\|47.03%,PHB2\|0.869615221\|4.22%
	View	combined sample_70.variant31	12	rs67395149 dbSNP Clinvar	106840195	32.08	CA	C	PASS	1/1	5	None	None	None							None None	None None None None	POLR3B\|0.649364009\|10.15%
	View	combined sample_70.variant31	12	.	47757932	32.14	A	C	DRAGENHardSNP	0/1	69	None	None	None							None None	None None None None	None
	View	combined sample_70.variant31	12	.	9248338	32.23	CTTTT	CT...	PASS	0/1	12	None	None	None							None None	None None None None	A2M\|0.10920489\|49.36%
	View	combined sample_70.variant31	12	rs145821926 dbSNP Clinvar	100464068	32.34	A	AT...	PASS	0/1	5	None	None	None							None None	None None None None	UHRF1BP1L\|0.297863685\|27.82%
	View	combined sample_70.variant31	12	.	110426653	32.51	CA...	CA...	PASS	0/5	11	None	None	None							None None	None None None None	GIT2\|0.333030786\|25.24%
	View	combined sample_70.variant31	12	rs112468500 dbSNP Clinvar	6840953	32.67	T	TA	PASS	0/1	32	None	None	None	0.11182	0.11300					None None	None None None None	COPS7A\|0.334215676\|25.15%
	View	combined sample_70.variant31	12	.	51633262	32.89	GAA	GA...	PASS	0/2	21	None	None	None							None None	None None None None	DAZAP2\|0.313955996\|26.5%
	View	combined sample_70.variant31	12	.	123893128	33.03	T	TTG	DRAGENHardINDEL	0/1	41	None	None	None							None None	None None None None	SETD8\|0.243980581\|32.09%
	View	combined sample_70.variant31	12	rs117671741 dbSNP Clinvar	15104147	33.2	C	T	PASS	0/1	8	None	None	None	0.01278	0.01278					None None	None None None None	ARHGDIB\|0.131635037\|45.66%
	View	combined sample_70.variant31	12	rs71227273 dbSNP Clinvar	53495682	33.55	C	CA	PASS	0/1	7	None	None	None							None None	None None None None	IGFBP6\|0.065800191\|58.4%
	View	combined sample_70.variant31	12	rs201882733,rs769215731,rs9300127 dbSNP Clinvar	19441011	34.23	CA...	CA...	PASS	3/3	49	None	None	None							None None	None None None None	PLEKHA5\|0.108527978\|49.46%
	View	combined sample_70.variant31	12	rs73297871 dbSNP Clinvar	31693733	34.29	T	A	PASS	1/1	3	None	None	None	0.17672	0.17670					None None	None None None None	DENND5B\|0.071759002\|57.04%
	View	combined sample_70.variant31	12	rs76377861 dbSNP Clinvar	53872861	34.47	T	A	PASS	0/1	7	None	None	None	0.03954	0.03954					None None	None None None None	PCBP2\|0.870455062\|4.18%
	View	combined sample_70.variant31	12	rs6488967 dbSNP Clinvar	125467465	34.49	T	C	PASS	1/1	24	None	None	None	0.86502	0.86500					None None	None None None None	DHX37\|0.038347868\|66.34%
	View	combined sample_70.variant31	12	rs117772339 dbSNP Clinvar	132401710	34.67	C	G	PASS	0/1	9	None	None	None							None None	None None None None	ULK1\|0.076117554\|56.04%
	View	combined sample_70.variant31	12	rs143144453 dbSNP Clinvar	10270060	34.67	CG	C	PASS	1/1	3	None	None	None	0.17292	0.17330					None None	None None None None	CLEC7A\|0.004847679\|86.03%
	View	combined sample_70.variant31	12	rs2067902 dbSNP Clinvar	51597909	34.94	T	C	PASS	0/1	11	None	None	None	0.61422	0.61420					None None	None None None None	POU6F1\|0.455864813\|17.88%
	View	combined sample_70.variant31	12	rs151119934 dbSNP Clinvar	40040059	35.62	G	GA	PASS	1/1	2	None	None	None	0.15815	0.15810					None None	None None None None	C12orf40\|0.007168323\|83.31%
	View	combined sample_70.variant31	12	rs74852645 dbSNP Clinvar	42478630	35.7	T	G	PASS	0/1	265	None	None	None							None None	None None None None	GXYLT1\|0.137586291\|44.77%
	View	combined sample_70.variant31	12	rs112043016 dbSNP Clinvar	86230253	35.83	G	GA	PASS	0/1	32	None	None	None	0.10463	0.10460					None None	None None None None	RASSF9\|0.068782685\|57.77%
	View	combined sample_70.variant31	12	rs7134871 dbSNP Clinvar	24969809	35.96	C	T	PASS	0/1	12	None	None	None	0.77935	0.77940					None None	None None None None	BCAT1\|0.134347415\|45.22%
	View	combined sample_70.variant31	12	rs767995125 dbSNP Clinvar	54370637	36.28	CT	C	PASS	0/1	20	None	None	None							None None	None None None None	HOXC11\|0.882112788\|3.92%
GXYLT1
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	combined sample_70.variant31	12	rs74583427 dbSNP Clinvar	42499701	36.46	C	A	PASS	0/1	153	NON_SYNONYMOUS_CODING	MODERATE	None				0.00	0.99		None None	None None None None	GXYLT1\|0.137586291\|44.77%
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	combined sample_70.variant31	12	rs376772110 dbSNP Clinvar	89912	36.98	C	T	DRAGENHardSNP	0/1	6	None	None	None							None None	None None None None	None
	View	combined sample_70.variant31	12	.	113729646	37.1	T	C	PASS	0/1	54	None	None	None							None None	None None None None	TPCN1\|0.144658887\|43.77%
	View	combined sample_70.variant31	12	rs143011477 dbSNP Clinvar	51785401	37.29	A	AA...	PASS	1/1	6	None	None	None	0.25120						None None	None None None None	GALNT6\|0.059851896\|59.9%,SLC4A8\|0.277578352\|29.29%
	View	combined sample_70.variant31	12	rs9668275 dbSNP Clinvar	8568238	37.3	G	A	PASS	1/1	4	None	None	None							None None	None None None None	None
	View	combined sample_70.variant31	12	rs767930149 dbSNP Clinvar	101994078	37.52	CT	C	DRAGENHardINDEL	0/1	329	None	None	None							None None	None None None None	MYBPC1\|0.380233302\|22.03%
	View	combined sample_70.variant31	12	.	11244930	37.53	T	G	PASS	0/1	16	None	None	None							None None	None None None None	PRR4\|0.000493683\|98.46%,TAS2R14\|0.00022192\|99.72%
	View	combined sample_70.variant31	12	rs76248098 dbSNP Clinvar	34182758	37.69	A	G	PASS	0/1	8	None	None	None	0.02895	0.02895					None None	None None None None	None
	View	combined sample_70.variant31	12	rs1667081 dbSNP Clinvar	78534395	37.69	A	G	PASS	0/1	14	None	None	None	0.36362	0.36360					None None	None None None None	NAV3\|0.397279416\|20.95%
	View	combined sample_70.variant31	12	rs66481138 dbSNP Clinvar	113757889	37.71	C	T	PASS	0/1	16	None	None	None	0.21805	0.21810					None None	None None None None	SLC8B1\|0.023548647\|72.39%
	View	combined sample_70.variant31	12	rs10861978 dbSNP Clinvar	109305359	37.73	C	T	PASS	1/1	19	None	None	None	0.37240	0.37240					None None	None None None None	SVOP\|0.286454914\|28.62%
	View	combined sample_70.variant31	12	.	133589164	37.97	GTTTT	GT...	PASS	3/3	1	None	None	None							None None	None None None None	None
	View	combined sample_70.variant31	12	.	106706056	37.98	TG	T	DRAGENHardINDEL	0/1	42	None	None	None							None None	None None None None	TCP11L2\|0.178301247\|39.25%
	View	combined sample_70.variant31	12	.	57642160	38.24	CTT	CT...	PASS	0/1	16	None	None	None							None None	None None None None	STAC3\|0.423089748\|19.43%
	View	combined sample_70.variant31	12	rs80115821 dbSNP Clinvar	42478619	38.26	C	T	PASS	0/1	264	None	None	None							None None	None None None None	GXYLT1\|0.137586291\|44.77%
	View	combined sample_70.variant31	12	.	80183558	38.26	CTT	CT,C	PASS	0/1	12	None	None	None							None None	None None None None	PPP1R12A\|0.953631848\|2.14%
	View	combined sample_70.variant31	12	.	66838272	38.51	CAA	C,...	PASS	0/4	21	None	None	None							None None	None None None None	GRIP1\|0.435977011\|18.89%
	View	combined sample_70.variant31	12	rs3994957,rs769291797 dbSNP Clinvar	81009858	38.7	TTA	T	PASS	1/1	3	None	None	None	0.00499	0.22780					None None	None None None None	PTPRQ\|0.143670456\|43.92%
	View	combined sample_70.variant31	12	rs149620408 dbSNP Clinvar	9452017	38.97	C	A	PASS	1/1	5	None	None	None							None None	None None None None	None
	View	combined sample_70.variant31	12	rs11346977,rs397850731 dbSNP Clinvar	31551002	39.19	CT	C	PASS	1/1	12	None	None	None	0.65735	0.65730					None None	None None None None	DENND5B\|0.071759002\|57.04%
	View	combined sample_70.variant31	12	rs2102376 dbSNP Clinvar	51888998	39.19	G	T	PASS	1/1	8	None	None	None	0.43530	0.43530					None None	None None None None	SLC4A8\|0.277578352\|29.29%
	View	combined sample_70.variant31	12	rs11110244 dbSNP Clinvar	100502062	39.22	C	G	PASS	0/1	15	None	None	None	0.27336	0.27340					None None	None None None None	UHRF1BP1L\|0.297863685\|27.82%
	View	combined sample_70.variant31	12	.	113729650	39.51	T	C	PASS	0/1	58	None	None	None							None None	None None None None	TPCN1\|0.144658887\|43.77%
GXYLT1
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	combined sample_70.variant31	12	rs77940338 dbSNP Clinvar	42499730	39.77	G	T	PASS	0/1	161	SYNONYMOUS_CODING	LOW	None							None None	None None None None	GXYLT1\|0.137586291\|44.77%
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	combined sample_70.variant31	12	rs1240288 dbSNP Clinvar	70274279	40.43	C	T	PASS	1/1	22	None	None	None	0.42552	0.42550					None None	None None None None	MYRFL\|0.109922136\|49.21%
	View	combined sample_70.variant31	12	rs10844336 dbSNP Clinvar	32897586	40.48	G	A	PASS	0/1	13	None	None	None	0.12700	0.12700					None None	None None None None	DNM1L\|0.863813357\|4.41%,YARS2\|0.136133815\|44.97%
	View	combined sample_70.variant31	12	rs10909296 dbSNP Clinvar	9586137	40.51	G	A	PASS	1/1	3	None	None	None							None None	None None None None	None
	View	combined sample_70.variant31	12	.	22839814	40.54	G	T	PASS	0/1	47	None	None	None							None None	None None None None	ETNK1\|0.386196641\|21.67%
	View	combined sample_70.variant31	12	rs73112026 dbSNP Clinvar	40905824	40.54	T	C	PASS	0/1	21	None	None	None	0.15475	0.15480					None None	None None None None	MUC19\|0.001564481\|92.49%
	View	combined sample_70.variant31	12	rs7978858 dbSNP Clinvar	101870427	40.7	C	A	PASS	1/1	11	None	None	None	0.28734	0.28730					None None	None None None None	SPIC\|0.03327725\|68.05%
	View	combined sample_70.variant31	12	rs113011043 dbSNP Clinvar	124018273	40.71	C	T	PASS	0/1	21	None	None	None	0.00359	0.00359					None None	None None None None	None
	View	combined sample_70.variant31	12	rs11112487 dbSNP Clinvar	105742241	40.71	C	T	PASS	0/1	14	None	None	None	0.11322	0.11320					None None	None None None None	C12orf75\|0.052956112\|61.78%
	View	combined sample_70.variant31	12	rs973005675 dbSNP Clinvar	21794662	40.73	T	C	PASS	0/1	7	None	None	None							None None	None None None None	LDHB\|0.371263075\|22.64%
	View	combined sample_70.variant31	12	rs144548100,rs141833959,rs570790585,rs555750563 dbSNP Clinvar	80648148	40.78	AT...	A	PASS	0/1	3	None	None	None	0.77276	0.77280					None None	None None None None	OTOGL\|0.150324558\|42.95%
	View	combined sample_70.variant31	12	rs140022963,rs113437686 dbSNP Clinvar	62894780	40.81	GTAT	G	PASS	0/1	7	None	None	None	0.06170	0.06170					None None	None None None None	MON2\|0.430627256\|19.11%
	View	combined sample_70.variant31	12	rs764756790 dbSNP Clinvar	6671154	40.93	ATT	AT,A	PASS	0/1	22	None	None	None		0.05591					None None	None None None None	NOP2\|0.155794011\|42.18%
	View	combined sample_70.variant31	12	rs2567132 dbSNP Clinvar	70956443	40.97	A	G	PASS	1/1	10	None	None	None	0.98542	0.98540					None None	None None None None	PTPRB\|0.177727795\|39.33%
	View	combined sample_70.variant31	12	rs781487383 dbSNP Clinvar	21065429	41.31	ATT	AT,A	PASS	2/1	15	None	None	None							None None	None None None None	SLCO1B3\|0.004141307\|86.81%,SLCO1B7\|0.00227604\|90.23%
	View	combined sample_70.variant31	12	rs17205511 dbSNP Clinvar	10165849	41.5	T	C	PASS	1/1	2	None	None	None	0.23962	0.23980					None None	None None None None	CLEC1B\|0.007200459\|83.3%,CLEC12B\|0.010251711\|80.68%
	View	combined sample_70.variant31	12	rs80129912 dbSNP Clinvar	7883235	41.57	TAA	TA...	PASS	0/1	8	None	None	None							None None	None None None None	CLEC4C\|0.001473569\|92.9%
	View	combined sample_70.variant31	12	.	49719149	41.59	TA	T,TAA	PASS	0/1	11	None	None	None							None None	None None None None	TROAP\|0.037564588\|66.6%
	View	combined sample_70.variant31	12	rs4980836 dbSNP Clinvar	675441	41.67	T	A	PASS	0/1	26	None	None	None	0.41793	0.41790					None None	None None None None	NINJ2\|0.024763413\|71.89%
	View	combined sample_70.variant31	12	rs2071271 dbSNP Clinvar	121670064	41.7	C	T	PASS	0/1	15	None	None	None	0.29972	0.29970					None None	None None None None	P2RX4\|0.117871038\|47.78%
	View	combined sample_70.variant31	12	rs139122077 dbSNP Clinvar	63543557	42.13	C	T	PASS	0/1	21	None	None	None							None None	None None None None	AVPR1A\|0.145508661\|43.64%
	View	combined sample_70.variant31	12	rs4763206 dbSNP Clinvar	10750848	42.17	C	T	PASS	0/1	4	None	None	None	0.15156	0.15160					None None	None None None None	None
SLC11A2
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	combined sample_70.variant31	12	rs224590 dbSNP Clinvar	51399997	42.23	A	G	PASS	1/1	18	None	None	None	0.89597	0.89600					None None	None None None None	SLC11A2\|0.427268755\|19.25%
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	combined sample_70.variant31	12	rs57012731 dbSNP Clinvar	69160266	42.26	CAA	CA...	PASS	0/1	28	None	None	None							None None	None None None None	SLC35E3\|0.025991204\|71.33%
	View	combined sample_70.variant31	12	rs2018673 dbSNP Clinvar	51386530	42.27	G	A	PASS	0/1	62	None	None	None							None None	None None None None	SLC11A2\|0.427268755\|19.25%
	View	combined sample_70.variant31	12	rs55670442,rs397821508 dbSNP Clinvar	78513833	42.41	T	TA...	PASS	1/1	5	None	None	None	0.58247	0.58250					None None	None None None None	NAV3\|0.397279416\|20.95%
	View	combined sample_70.variant31	12	rs11307761,rs796342221 dbSNP Clinvar	93796808	42.66	AT	A	PASS	1/1	3	None	None	None	0.69609	0.69610					None None	None None None None	NUDT4\|0.27281286\|29.65%
	View	combined sample_70.variant31	12	rs35645378 dbSNP Clinvar	100522321	42.78	GA	G,...	PASS	0/1	13	None	None	None							None None	None None None None	UHRF1BP1L\|0.297863685\|27.82%
	View	combined sample_70.variant31	12	rs61955129 dbSNP Clinvar	123892264	42.81	T	C	PASS	0/1	68	None	None	None							None None	None None None None	SETD8\|0.243980581\|32.09%
	View	combined sample_70.variant31	12	rs760185858 dbSNP Clinvar	96694172	42.92	CTT	CT...	PASS	0/1	20	None	None	None							None None	None None None None	CDK17\|0.620183439\|11.08%
	View	combined sample_70.variant31	12	rs10635704,rs56868658 dbSNP Clinvar	51867811	43.02	A	AAAAC	PASS	1/1	9	None	None	None	0.90136	0.90140					None None	None None None None	SLC4A8\|0.277578352\|29.29%
	View	combined sample_70.variant31	12	rs747616503 dbSNP Clinvar	96677225	43.31	GTTT	GT...	PASS	0/1	19	None	None	None							None None	None None None None	CDK17\|0.620183439\|11.08%
	View	combined sample_70.variant31	12	rs758919806,rs570332936 dbSNP Clinvar	117647944	43.43	ATTT	AT,A	PASS	0/1	6	None	None	None							None None	None None None None	NOS1\|0.549373488\|13.75%
	View	combined sample_70.variant31	12	rs11832807 dbSNP Clinvar	55028808	43.49	C	A	PASS	0/1	19	None	None	None	0.41234	0.41230					None None	None None None None	None
	View	combined sample_70.variant31	12	rs111633701,rs58470284 dbSNP Clinvar	122078637	43.52	A	AA...	PASS	2/2	3	None	None	None	0.02256	0.06170					None None	None None None None	ORAI1\|0.209658058\|35.62%
	View	combined sample_70.variant31	12	rs112581115 dbSNP Clinvar	58216927	43.55	C	T	PASS	0/1	28	None	None	None							None None	None None None None	CTDSP2\|0.553853126\|13.56%
	View	combined sample_70.variant31	12	rs6538424 dbSNP Clinvar	93894779	43.71	A	T	PASS	0/1	13	None	None	None	0.59685	0.59680					None None	None None None None	MRPL42\|0.200233582\|36.74%
	View	combined sample_70.variant31	12	rs56131726 dbSNP Clinvar	1021188	43.72	T	C	PASS	0/1	4	None	None	None	0.31649	0.31650					None None	None None None None	None
	View	combined sample_70.variant31	12	rs28391155 dbSNP Clinvar	10270043	43.72	T	C	PASS	1/1	3	None	None	None	0.17392	0.17390					None None	None None None None	CLEC7A\|0.004847679\|86.03%
	View	combined sample_70.variant31	12	rs10876138 dbSNP Clinvar	51511244	43.74	G	A	PASS	0/1	16	None	None	None	0.41873	0.41870					None None	None None None None	TFCP2\|0.675157081\|9.23%
	View	combined sample_70.variant31	12	.	117646533	43.87	CT	CT...	PASS	0/1	30	None	None	None							None None	None None None None	NOS1\|0.549373488\|13.75%
	View	combined sample_70.variant31	12	rs144554747,rs547280140 dbSNP Clinvar	45621906	43.95	GTTTT	GT...	PASS	0/2	25	None	None	None							None None	None None None None	ANO6\|0.07897756\|55.4%

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+ Genes 516

+ Genes associated with diseases 124

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Summary

GXYLT1

GXYLT1

GXYLT1

SLC11A2

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