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Genes:
ABCA13, ABCB1, ABCB4, ABCB5, ABCF2, ABHD11, AC004899.1, AC005008.2, AC005481.5, AC011294.3, AC021218.2, AC073343.1, AC074389.6, AC091801.1, AC099552.4, AC110781.3, ACTR3C, ADAM22, ADAP1, ADCK2, ADCY1, AEBP1, AGAP3, AGBL3, AGR2, AHCYL2, AIMP2, AKAP9, AKR1B10, ALKBH4, AMPH, AMZ1, ANKIB1, ANKMY2, ANKRD61, ANLN, AOAH, AOC1, ARHGEF35, ARHGEF5, ASB10, ASB15, ASNS, ASZ1, ATG9B, ATP6V0A4, ATP6V1F, AVL9, AZGP1, BAIAP2L1, BBS9, BLACE, BLVRA, BMPER, BRAF, BRAT1, C7orf13, C7orf25, C7orf26, C7orf31, C7orf57, C7orf62, C7orf63, C7orf65, C7orf69, C7orf72, CACNA2D1, CADPS2, CALCR, CALD1, CALU, CAMK2B, CARD11, CASD1, CAV1, CAV2, CBLL1, CCDC129, CCDC132, CCDC136, CCDC146, CCT6A, CCZ1, CCZ1B, CDCA7L, CDHR3, CFTR, CHN2, CHPF2, CLCN1, CLIP2, CNOT4, CNTNAP2, COA1, COBL, COG5, COL1A2, COL26A1, COL28A1, CPA1, CPA4, CPA5, CPED1, CPSF4, CPVL, CREB3L2, CRHR2, CRYGN, CTAGE15, CTAGE4, CTAGE6, CUX1, CYP3A7, CYTH3, DAGLB, DBNL, DDC, DENND2A, DFNA5, DGKB, DGKI, DLD, DLX6, DMTF1, DNAH11, DNAJB6, DNAJB9, DNAJC30, DPP6, DPY19L1, DTX2, EEPD1, EFCAB10, EGFR, EIF2AK1, EIF3B, ELMO1, ELN, EN2, EPDR1, EPHA1, EPHB4, ERV3-1, ESYT2, ETV1, EXOC4, FAM115C, FAM126A, FAM185A, FAM188B, FAM20C, FAM71F2, FBXL13, FBXL18, FIS1, FKBP14, FLNC, FOXK1, FOXP2, FZD1, GAL3ST4, GALNTL5, GARS, GATS, GET4, GHRHR, GIGYF1, GIMAP1, GIMAP2, GIMAP4, GIMAP5, GIMAP6, GIMAP7, GIMAP8, GLCCI1, GLI3, GNA12, GPC2, GPNMB, GPR141, GPR37, GRB10, GRID2IP, GSAP, GTF2IRD2, GTPBP10, GUSB, HBP1, HDAC9, HEATR2, HECW1, HGF, HIBADH, HIPK2, HOXA1, HOXA4, HOXA7, HTR5A, HUS1, ICA1, IFRD1, IGF2BP3, IGFBP3, IKZF1, INMT, INTS1, IQCE, IQUB, IRF5, ISPD, ITGB8, KCNH2, KDELR2, KIAA1549, KLF14, KLRG2, KMT2C, KMT2E, KPNA7, KRBA1, KRIT1, LAMB1, LAMB4, LAMTOR4, LFNG, LIMK1, LMOD2, LMTK2, LRCH4, LRGUK, LRRC17, LRRC4, LRRC61, LRRD1, LRWD1, LSM5, LUC7L2, MACC1, MAD1L1, MAGI2, MCM7, MDFIC, MEOX2, MET, METTL2B, MGAM, MICALL2, MIOS, MKRN1, MLXIPL, MPP6, MRPL32, MRPS24, MTERF, MUC12, MUC17, MUC3A, MYL10, MYL7, MYO1G, NACAD, NAMPT, NAPEPLD, NCAPG2, NCF1, NDUFB2, NME8, NOBOX, NOD1, NOM1, NOS3, NPC1L1, NPSR1, NPVF, NPY, NRCAM, NRF1, NSUN5, NUB1, NUP205, NXPH1, OPN1SW, OR2A1, OR2A14, OR2A2, OR2A25, OR2A5, OR2AE1, OR6B1, OSBPL3, PAPOLB, PARP12, PAX4, PAXIP1, PCLO, PDE1C, PDGFA, PDK4, PEX1, PGAM2, PHKG1, PHTF2, PIK3CG, PILRA, PKD1L1, PLXNA4, PMS2, PODXL, POLM, POM121, POM121C, POM121L12, PON1, PON2, PON3, POP7, POR, POT1, POU6F2, PP13004, PPP1R17, PPP1R3A, PPP1R9A, PRKAR1B, PRKAR2B, PRPS1L1, PRR15, PRRT4, PRSS1, PRSS37, PRSS58, PSMC2, PSPH, PTPN12, PTPRN2, PTPRZ1, PURB, PVRIG, RAB19, RADIL, RAMP3, RAPGEF5, RARRES2, RASA4B, RBAK, RBAK-RBAKDN, RBM28, RBM33, RELN, REPIN1, RFC2, RHBDD2, RINT1, RNF32, RP11-1220K2.2, RP11-514P8.7, RSBN1L, RSPH10B, RSPH10B2, SAMD9, SAMD9L, SCIN, SDK1, SEMA3A, SEMA3C, SEMA3D, SEMA3E, SEPT7, SERPINE1, SFRP4, SGCE, SH2B2, SLC12A9, SLC13A4, SLC25A13, SLC26A3, SLC35B4, SLC4A2, SMO, SMURF1, SND1, SNX13, SNX8, SP8, SPDYE2, SRRM3, SRRT, ST7-OT4, STAG3, STEAP1B, STEAP2, STEAP4, STK17A, STK31, STRA8, STX1A, STYXL1, SUGCT, SUMF2, SUN1, SVOPL, SYPL1, TAS2R16, TAS2R3, TAS2R38, TAS2R4, TAS2R41, TAS2R5, TAS2R60, TAX1BP1, TBL2, TBX20, TBXAS1, TECPR1, TES, TFEC, THSD7A, TMEM106B, TMEM120A, TMEM130, TMEM140, TMEM176A, TMEM176B, TMEM178B, TMEM184A, TMEM209, TMEM213, TMEM60, TNPO3, TNRC18, TNS3, TRBC2, TRBV10-1, TRBV11-1, TRBV19, TRBV2, TRBV20-1, TRBV25-1, TRBV27, TRBV3-1, TRBV4-1, TRBV4-2, TRBV5-1, TRBV5-4, TRBV5-5, TRBV5-6, TRBV6-1, TRBV6-4, TRBV6-5, TRBV6-6, TRBV6-7, TRBV6-8, TRBV7-3, TRBV7-4, TRBV7-6, TRBV7-7, TRBV7-8, TRGC1, TRGC2, TRGJ1, TRGV11, TRGV2, TRGV3, TRGV4, TRGV9, TRIM4, TRIM50, TRIM56, TRIP6, TRPV5, TSPAN12, TSPAN13, TSPAN33, TSRM, TYW1, TYW1B, UBE3C, UBN2, UFSP1, UPK3B, URGCP, USP42, VIPR2, VOPP1, VPS41, VSTM2A, VWDE, WASL, WBSCR16, WBSCR17, WBSCR27, WBSCR28, WDR60, WDR86, WDR91, WEE2, WIPF3, WIPI2, WNT16, YAE1D1, YWHAG, ZAN, ZBED6CL, ZC3HAV1, ZC3HC1, ZNF107, ZNF117, ZNF138, ZNF212, ZNF277, ZNF3, ZNF398, ZNF425, ZNF467, ZNF655, ZNF679, ZNF680, ZNF713, ZNF727, ZNF736, ZNF775, ZNF777, ZNF783, ZNF853, ZNF862, ZSCAN21,

+ Genes associated with diseases 102

Genes at Omim

ABCB1, ABCB4, ADAM22, ADCY1, AEBP1, AIMP2, AKAP9, ANLN, ASB10, ASNS, ATP6V0A4, BLVRA, BMPER, BRAF, BRAT1, CALCR, CAMK2B, CARD11, CAV1, CFTR, CLCN1, CNTNAP2, COG5, COL1A2, CUX1, DDC, DLD, DNAH11, DNAJB6, DPP6, EGFR, ELN, EPHB4, FAM126A, FAM20C, FKBP14, FLNC, FOXP2, GARS, GHRHR, GLCCI1, GLI3, GPNMB, GUSB, HGF, HOXA1, IKZF1, IQCE, IRF5, ISPD, KCNH2, KMT2C, LAMB1, LFNG, MAD1L1, MAGI2, MET, NCF1, NME8, NOBOX, NOS3, NPC1L1, NPSR1, NUP205, OPN1SW, PAX4, PCLO, PDE1C, PEX1, PGAM2, PKD1L1, PMS2, PON1, PON2, POR, POT1, POU6F2, PPP1R3A, PRSS1, PSPH, PTPN12, RBM28, RELN, SAMD9, SAMD9L, SEMA3A, SEMA3E, SFRP4, SGCE, SLC25A13, SLC26A3, STAG3, TAS2R16, TAS2R38, TBX20, TBXAS1, TMEM106B, TNPO3, TSPAN12, WDR60, WEE2, YWHAG,

ABCB1	{Inflammatory bowel disease 13}, 612244 (3) {Colchicine resistance}, 120080 (3)
ABCB4	Gallbladder disease 1, 600803 (3) Cholestasis, intrahepatic, of pregnancy, 3, 614972 (3) Cholestasis, progressive familial intrahepatic 3, 602347 (3)
ADAM22	?Epileptic encephalopathy, early infantile, 61, 617933 (3)
ADCY1	?Deafness, autosomal recessive 44, 610154 (3)
AEBP1	Ehlers-Danlos syndrome, classic-like, 2, 618000 (3)
AIMP2	Leukodystrophy, hypomyelinating, 17, 618006 (3)
AKAP9	?Long QT syndrome-11, 611820 (3)
ANLN	Focal segmental glomerulosclerosis 8, 616032 (3)
ASB10	Glaucoma 1, open angle, F, 603383 (3)
ASNS	Asparagine synthetase deficiency, 615574 (3)
ATP6V0A4	Renal tubular acidosis, distal, autosomal recessive, 602722 (3)
BLVRA	Hyperbiliverdinemia, 614156 (3)
BMPER	Diaphanospondylodysostosis, 608022 (3)
BRAF	Adenocarcinoma of lung, somatic, 211980 (3) Cardiofaciocutaneous syndrome, 115150 (3) Colorectal cancer, somatic (3) LEOPARD syndrome 3, 613707 (3) Melanoma, malignant, somatic (3) Nonsmall cell lung cancer, somatic (3) Noonan syndrome 7, 613706 (3)
BRAT1	Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, 618056 (3) Rigidity and multifocal seizure syndrome, lethal neonatal, 614498 (3)
CALCR	{Osteoporosis, postmenopausal, susceptibility}, 166710 (3)
CAMK2B	Mental retardation, autosomal dominant 54, 617799 (3)
CARD11	B-cell expansion with NFKB and T-cell anergy, 616452 (3) Immunodeficiency 11A, 615206 (3) Immunodeficiency 11B with atopic dermatitis, 617638 (3)
CAV1	Lipodystrophy, familial partial, type 7, 606721 (3) ?Lipodystrophy, congenital generalized, type 3, 612526 (3) Pulmonary hypertension, primary, 3, 615343 (3)
CFTR	{Hypertrypsinemia, neonatal} (3) Congenital bilateral absence of vas deferens, 277180 (3) Cystic fibrosis, 219700 (3) {Pancreatitis, hereditary}, 167800 (3) Sweat chloride elevation without CF (3) {Bronchiectasis with or without elevated sweat chloride 1, modifier of}, 211400 (3)
CLCN1	Myotonia congenita, dominant, 160800 (3) Myotonia congenita, recessive, 255700 (3) Myotonia levior, recessive (3)
CNTNAP2	Cortical dysplasia-focal epilepsy syndrome, 610042 (3) Pitt-Hopkins like syndrome 1, 610042 (3) {Autism susceptibility 15}, 612100 (3)
COG5	Congenital disorder of glycosylation, type IIi, 613612 (3)
COL1A2	{Osteoporosis, postmenopausal}, 166710 (3) Ehlers-Danlos syndrome, arthrochalasia type, 2, 617821 (3) Ehlers-Danlos syndrome, cardiac valvular type, 225320 (3) Osteogenesis imperfecta, type II, 166210 (3) Osteogenesis imperfecta, type III, 259420 (3) Osteogenesis imperfecta, type IV, 166220 (3)
CUX1	Global developmental delay with or without impaired intellectual development, 618330 (3)
DDC	Aromatic L-amino acid decarboxylase deficiency, 608643 (3)
DLD	Dihydrolipoamide dehydrogenase deficiency, 246900 (3)
DNAH11	Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)
DNAJB6	Muscular dystrophy, limb-girdle, autosomal dominant 1, 603511 (3)
DPP6	{Ventricular fibrillation, paroxysmal familial, 2}, 612956 (3) Mental retardation, autosomal dominant 33, 616311 (3)
EGFR	Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, 211980 (3) {Nonsmall cell lung cancer, susceptibility to}, 211980 (3) ?Inflammatory skin and bowel disease, neonatal, 2, 616069 (3) Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, 211980 (3)
ELN	Cutis laxa, autosomal dominant, 123700 (3) Supravalvar aortic stenosis, 185500 (3)
EPHB4	Capillary malformation-arteriovenous malformation 2, 618196 (3) Lymphatic malformation 7, 617300 (3)
FAM126A	Leukodystrophy, hypomyelinating, 5, 610532 (3)
FAM20C	Raine syndrome, 259775 (3)
FKBP14	Ehlers-Danlos syndrome, kyphoscoliotic type, 2, 614557 (3)
FLNC	Cardiomyopathy, familial hypertrophic, 26 (3) Cardiomyopathy, familial restrictive 5, 617047 (3) Myopathy, distal, 4, 614065 (3) Myopathy, myofibrillar, 5, 609524 (3)
FOXP2	Speech-language disorder-1, 602081 (3)
GARS	Charcot-Marie-Tooth disease, type 2D, 601472 (3) Neuropathy, distal hereditary motor, type VA, 600794 (3)
GHRHR	Growth hormone deficiency, isolated, type IV, 618157 (3)
GLCCI1	{Glucocorticoid therapy, response to}, 614400 (3)
GLI3	{Hypothalamic hamartomas, somatic}, 241800 (3) Greig cephalopolysyndactyly syndrome, 175700 (3) Pallister-Hall syndrome, 146510 (3) Polydactyly, postaxial, types A1 and B, 174200 (3) Polydactyly, preaxial, type IV, 174700 (3)
GPNMB	Amyloidosis, primary localized cutaneous, 3, 617920 (3)
GUSB	Mucopolysaccharidosis VII, 253220 (3)
HGF	Deafness, autosomal recessive 39, 608265 (3)
HOXA1	Athabaskan brainstem dysgenesis syndrome, 601536 (3) Bosley-Salih-Alorainy syndrome, 601536 (3)
IKZF1	Immunodeficiency, common variable, 13, 616873 (3)
IQCE	?Polydactyly, postaxial, type A7, 617642 (3)
IRF5	{Inflammatory bowel disease 14}, 612245 (3) {Systemic lupus erythematosus, susceptibility to, 10}, 612251 (3)
ISPD	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643 (3) Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, 616052 (3)
KCNH2	{Long QT syndrome 2, acquired, susceptibility to}, 613688 (3) Long QT syndrome 2, 613688 (3) Short QT syndrome 1, 609620 (3)
KMT2C	Kleefstra syndrome 2, 617768 (3)
LAMB1	Lissencephaly 5, 615191 (3)
LFNG	Spondylocostal dysostosis 3, autosomal recessive, 609813 (3)
MAD1L1	Lymphoma, somatic (3) Prostate cancer, somatic, 176807 (3)
MAGI2	Nephrotic syndrome, type 15, 617609 (3)
MET	Hepatocellular carcinoma, childhood type, somatic, 114550 (3) {Osteofibrous dysplasia, susceptibility to}, 607278 (3) ?Deafness, autosomal recessive 97, 616705 (3) Renal cell carcinoma, papillary, 1, familial and somatic, 605074 (3)
NCF1	Chronic granulomatous disease due to deficiency of NCF-1, 233700 (3)
NME8	Ciliary dyskinesia, primary, 6, 610852 (3)
NOBOX	Premature ovarian failure 5, 611548 (3)
NOS3	{Hypertension, pregnancy-induced}, 189800 (3) {Hypertension, susceptibility to}, 145500 (3) {Ischemic stroke, susceptibility to}, 601367 (3) {Placental abruption} (3) {Alzheimer disease, late-onset, susceptibility to}, 104300 (3) {Coronary artery spasm 1, susceptibility to} (3)
NPC1L1	[Ezetimibe, nonresponse to], 617966 (3) [Low density lipoprotein cholesterol level QTL 7], 617966 (3)
NPSR1	{Asthma, susceptibility to, 2}, 608584 (3)
NUP205	?Nephrotic syndrome, type 13, 616893 (3)
OPN1SW	Colorblindness, tritan, 190900 (3)
PAX4	Diabetes mellitus, type 2, 125853 (3) Maturity-onset diabetes of the young, type IX, 612225 (3) {Diabetes mellitus, ketosis-prone, susceptibility to}, 612227 (3)
PCLO	?Pontocerebellar hypoplasia, type 3, 608027 (3)
PDE1C	?Deafness, autosomal dominant 74, 618140 (3)
PEX1	Heimler syndrome 1, 234580 (3) Peroxisome biogenesis disorder 1A (Zellweger), 214100 (3) Peroxisome biogenesis disorder 1B (NALD/IRD), 601539 (3)
PGAM2	Glycogen storage disease X, 261670 (3)
PKD1L1	Heterotaxy, visceral, 8, autosomal, 617205 (3)
PMS2	Colorectal cancer, hereditary nonpolyposis, type 4, 614337 (3) Mismatch repair cancer syndrome, 276300 (3)
PON1	{Microvascular complications of diabetes 5}, 612633 (3) {Organophosphate poisoning, sensitivity to} (3) {Coronary artery disease, susceptibility to} (3) {Coronary artery spasm 2, susceptibility to (3)
PON2	{Coronary artery disease, susceptibility to} (3)
POR	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 (3) Disordered steroidogenesis due to cytochrome P450 oxidoreductase, 613571 (3)
POT1	{Glioma susceptibility 9}, 616568 (3) {Melanoma, cutaneous malignant, susceptibility to, 10}, 615848 (3)
POU6F2	{Wilms tumor susceptibility-5}, 601583 (3)
PPP1R3A	Insulin resistance, severe, digenic, 125853 (3)
PRSS1	Pancreatitis, hereditary, 167800 (3) Trypsinogen deficiency, 614044 (1)
PSPH	Phosphoserine phosphatase deficiency, 614023 (3)
PTPN12	Colon cancer, somatic, 114500 (3)
RBM28	?Alopecia, neurologic defects, and endocrinopathy syndrome, 612079 (3)
RELN	Lissencephaly 2 (Norman-Roberts type), 257320 (3) {Epilepsy, familial temporal lobe, 7}, 616436 (3)
SAMD9	MIRAGE syndrome, 617053 (3) Tumoral calcinosis, familial, normophosphatemic, 610455 (3)
SAMD9L	Ataxia-pancytopenia syndrome, 159550 (3)
SEMA3A	{Hypogonadotropic hypogonadism 16 with or without anosmia}, 614897 (3)
SEMA3E	?CHARGE syndrome, 214800 (3)
SFRP4	Pyle disease, 265900 (3)
SGCE	Dystonia-11, myoclonic, 159900 (3)
SLC25A13	Citrullinemia, adult-onset type II, 603471 (3) Citrullinemia, type II, neonatal-onset, 605814 (3)
SLC26A3	Diarrhea 1, secretory chloride, congenital, 214700 (3)
STAG3	Premature ovarian failure 8, 615723 (3)
TAS2R16	[Beta-glycopyranoside tasting], 617956 (3) {Alcohol dependence, susceptibility to}, 103780 (3)
TAS2R38	[Phenylthiocarbamide tasting], 171200 (3)
TBX20	Atrial septal defect 4, 611363 (3)
TBXAS1	Ghosal hematodiaphyseal syndrome, 231095 (3) ?Thromboxane synthase deficiency, 614158 (1)
TMEM106B	Leukodystrophy, hypomyelinating, 16, 617964 (3)
TNPO3	Muscular dystrophy, limb-girdle, autosomal dominant 2, 608423 (3)
TSPAN12	Exudative vitreoretinopathy 5, 613310 (3)
WDR60	Short-rib thoracic dysplasia 8 with or without polydactyly, 615503 (3)
WEE2	Oocyte maturation defect 5, 617996 (3)
YWHAG	Epileptic encephalopathy, early infantile, 56, 617665 (3)

Genes at Clinical Genomics Database

ABCB1, ABCB4, ADCY1, AKAP9, ANLN, ASNS, ATP6V0A4, BBS9, BLVRA, BMPER, BRAF, BRAT1, CARD11, CAV1, CFTR, CLCN1, CNTNAP2, COG5, COL1A2, DDC, DFNA5, DLD, DNAH11, DNAJB6, DPP6, EGFR, ELN, FAM126A, FAM20C, FKBP14, FLNC, FOXP2, GARS, GHRHR, GLI3, GUSB, HGF, HOXA1, IKZF1, ISPD, KCNH2, KRIT1, LAMB1, LFNG, MET, NCF1, NME8, NOBOX, NPC1L1, NUP205, OPN1SW, PAX4, PEX1, PGAM2, PMS2, PON1, POR, POT1, POU6F2, PPP1R3A, PRSS1, PSPH, RBM28, RELN, SAMD9, SEMA3A, SEMA3E, SERPINE1, SGCE, SLC25A13, SLC26A3, STAG3, SUGCT, TAS2R38, TBX20, TBXAS1, TNPO3, TSPAN12, WDR60,

ABCB1	Colchicine metabolism, association with
ABCB4	Cholestasis, progressive familial intrahepatic 3 Low phospholipid-associated cholelithiasis 1 Cholestasis, oral contraceptives induced Cholestasis, familial intrahepatic, of pregnancy Gallbladder disease 1
ADCY1	Deafness, autosomal dominant 44
AKAP9	Long QT syndrome 11
ANLN	Focal segmental glomerulosclerosis 8
ASNS	Asparagine synthetase deficiency
ATP6V0A4	Renal tubular acidosis, distal, autosomal recessive
BBS9	Bardet-Biedl syndrome 9
BLVRA	Hyperbiliverdinemia
BMPER	Diaphanospondylodysostosis
BRAF	Noonan syndrome Cardiofaciocutaneous syndrome LEOPARD syndrome 3
BRAT1	Rigidity and multifocal seizure syndrome, lethal neonatal
CARD11	B-cell expansion with NFKB and T-cell anergy Immunodeficiency 11
CAV1	Lipodystrophy, congenital generalized, type 3 Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome
CFTR	Cystic fibrosis
CLCN1	Myotonia congenita, autosomal dominant Myotonia congenita, autosomal recessive, Myotonia levior
CNTNAP2	Cortical dysplasia-focal epilepsy syndrome Pitt-Hopkins like syndrome 1
COG5	Congenital disorder of glycosylation, type IIi
COL1A2	Ehlers-Danlos syndrome, cardiac valvular form
DDC	Aromatic l-amino acid decarboxylase deficiency
DFNA5	Deafness, autosomal dominant 5
DLD	Dihydrolipoyl dehydrogenase deficiency
DNAH11	Ciliary dyskinesia, primary, 7
DNAJB6	Muscular dystrophy, limb-girdle, type 1E
DPP6	Ventricular fibrillation, paroxysmal familial, 2
EGFR	Acute myeloid leukemia, familial Lung cancer, familial, susceptibilty to Inflammatory skin and bowel disease, neonatal, 2
ELN	Cutis laxa, autosomal dominant 1 Supravalvular aortic stenosis
FAM126A	Leukodystrophy, hypomyelinating, 5
FAM20C	Hypophosphatemia,hyperphosphaturia, dental anomalies, intracerebral calcifications and osteosclerosis (Raine syndrome)
FKBP14	Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
FLNC	Myopathy, distal, 4 Myopathy, myofibrillar, 5
FOXP2	Speech-language disorder 1
GARS	Charcot-Marie-Tooth disease, type 2D Neuropathy, distal hereditary motor, type V
GHRHR	Isolated growth hormone deficiency, type 1B
GLI3	Acrocallosal syndrome Pallister-Hall syndrome Grieg cephalopolysndactyly syndrome Postaxial polydactyly type A1 Polydactyly, preaxial, type IV Polydactyly, postaxial, types A1 and B
GUSB	Mucopolysaccharidosis type VII
HGF	Deafness, autosomal recessive 39
HOXA1	Athabaskan brainstem dysgenesis syndrome Bosley-Salih-Alorainy syndrome
IKZF1	Immunodeficiency, common variable, 13
ISPD	Muscular dystrophy-dystroglycanopathy (congenital, with brain and eye anomalies), type A, 7 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7
KCNH2	Long QT syndrome 2 Short QT syndrome 1
KRIT1	Cerebral cavernous malformations 1
LAMB1	Lissencephaly 5
LFNG	Spondylocostal dysostosis, autosomal recessive 3
MET	Renal cell carcinoma, papillary Deafness, autosomal recessive 97
NCF1	Chronic granulomatous disease, autosomal recessive, cytochrome b-positive, type I
NME8	Ciliary dyskinesia, primary, 6
NOBOX	Premature ovarian failure 5
NPC1L1	Ezetimibe, nonresponse to
NUP205	Nephrotic syndrome, type 13
OPN1SW	Tritanopia
PAX4	Diabetes mellitus
PEX1	Heimler syndrome 1
PGAM2	Glycogen storage disease X
PMS2	Colorectal cancer, hereditary nonpolyposis type 4 Mismatch repair cancer syndrome
PON1	Clopidogrel treatment, sensitivity to
POR	Antley-Bixler syndrome Disordered steroidogenesis due to cytochrome p450 oxidoreductase deficiency
POT1	Glioma susceptibility 9 Melanoma, cutaneous malignant, susceptibility to 10
POU6F2	Wilms tumor 5
PPP1R3A	Insulin resistance, severe, digenic
PRSS1	Pancreatitis, hereditary
PSPH	Phosphoserine phosphatase deficiency
RBM28	Alopecia, neurologic defects, and endocrinopathy syndrome
RELN	Epilepsy, familial temporal lobe, 7 Lissencephaly 2
SAMD9	Tumoral calcinosis, normophosphatemic
SEMA3A	Hypogonadotropic hypogonadism 16 with or without anosmia
SEMA3E	CHARGE syndrome
SERPINE1	Plasminogen activator inhibitor-1 deficiency
SGCE	Dystonia 11, myoclonic
SLC25A13	Citrin deficiency
SLC26A3	Diarrhea 1, secretory chloride, congenital
STAG3	Premature ovarian failure 8
SUGCT	Glutaric aciduria III
TAS2R38	Thiourea tasting Phenylthiocarbamide tasting
TBX20	Atrial septal defect 4
TBXAS1	Ghosal hematodiaphyseal syndrome
TNPO3	Muscular dystrophy, limb-girdle, type 1F
TSPAN12	Exudative vitreoretinopathy 5 Retinal dysplasia and severe familial exudative vitreoretinopathy
WDR60	Short -rib thoracic dysplasia 8 with or without polydactyly

Genes at HGMD

Summary

Number of Variants: 8455
Number of Genes: 526

Export to: CSV

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ABCA13
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	combined sample_92.variant37	7	rs2361519 dbSNP Clinvar	48287840	1410.3	G	A	PASS	0/1	104	NON_SYNONYMOUS_CODING	MODERATE	None	0.19808	0.19810	0.16171		0.00		None None	None None None None	ABCA13\|0.04721773\|63.52%
	View	combined sample_92.variant37	7	rs17712293 dbSNP Clinvar	48311563	1071.4	T	G	PASS	0/1	111	NON_SYNONYMOUS_CODING	MODERATE	None	0.19449	0.19450	0.14847		0.08		None None	None None None None	ABCA13\|0.04721773\|63.52%
	View	combined sample_92.variant37	7	rs17547830 dbSNP Clinvar	48313510	1736.69	A	G	PASS	0/1	102	NON_SYNONYMOUS_CODING	MODERATE	None	0.18730	0.18730	0.30130		0.01		None None	None None None None	ABCA13\|0.04721773\|63.52%
	View	combined sample_92.variant37	7	rs6583483 dbSNP Clinvar	48313949	870.56	C	T	PASS	0/1	74	SYNONYMOUS_CODING	LOW	None	0.12660	0.12660	0.09410				None None	None None None None	ABCA13\|0.04721773\|63.52%
	View	combined sample_92.variant37	7	rs6955212 dbSNP Clinvar	48314279	1740.5	G	A	PASS	0/1	132	SYNONYMOUS_CODING	LOW	None	0.19329	0.19330	0.14548				None None	None None None None	ABCA13\|0.04721773\|63.52%
	View	combined sample_92.variant37	7	rs13233225 dbSNP Clinvar	48314798	955.07	G	T	PASS	0/1	126	SYNONYMOUS_CODING	LOW	None	0.21645	0.21650	0.33389				None None	None None None None	ABCA13\|0.04721773\|63.52%
	View	combined sample_92.variant37	7	rs1880736 dbSNP Clinvar	48315796	2930.49	C	A	PASS	0/1	65	NON_SYNONYMOUS_CODING	MODERATE	None	0.81290	0.81290	0.30295		0.00		None None	None None None None	ABCA13\|0.04721773\|63.52%
	View	combined sample_92.variant37	7	rs74859514 dbSNP Clinvar	48315930	653.27	G	C	PASS	0/1	71	NON_SYNONYMOUS_CODING	MODERATE	None	0.03115	0.03115	0.06897		0.04		None None	None None None None	ABCA13\|0.04721773\|63.52%
	View	combined sample_92.variant37	7	rs2222648 dbSNP Clinvar	48318811	4175.93	C	T	PASS	1/1	105	NON_SYNONYMOUS_CODING	MODERATE	None	0.85224	0.85220	0.22580		0.00		None None	None None None None	ABCA13\|0.04721773\|63.52%
	View	combined sample_92.variant37	7	rs6583546 dbSNP Clinvar	48336844	3861.81	C	T	PASS	0/1	158	SYNONYMOUS_CODING	LOW	None	0.76897	0.76900	0.35105				None None	None None None None	ABCA13\|0.04721773\|63.52%
	View	combined sample_92.variant37	7	rs6583448 dbSNP Clinvar	48545976	3777.39	A	G	PASS	1/1	141	NON_SYNONYMOUS_CODING	MODERATE	None	1.00000	1.00000			0.00		None None	None None None None	ABCA13\|0.04721773\|63.52%
ABCB1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	combined sample_92.variant37	7	rs2229109 dbSNP Clinvar	87179809	632.01	C	T	PASS	0/1	86	NON_SYNONYMOUS_CODING	MODERATE	None	0.01258	0.01258	0.02823	0.39	0.00		None None	None None None None	ABCB1\|0.831468236\|5.08%
	View	combined sample_92.variant37	7	rs1045642 dbSNP Clinvar	87138645	1860.87	A	G	PASS	0/1	176	SYNONYMOUS_CODING	LOW	None	0.60483	0.60480	0.42334				None None	None None None None	ABCB1\|0.831468236\|5.08%
	View	combined sample_92.variant37	7	rs2032582 dbSNP Clinvar	87160618	2921.09	A	C	PASS	0/1	97	NON_SYNONYMOUS_CODING	MODERATE	None	0.04872	0.61700	0.32193	1.00	0.00		None None	None None None None	ABCB1\|0.831468236\|5.08%
	View	combined sample_92.variant37	7	rs1128503 dbSNP Clinvar	87179601	1019.95	A	G	PASS	0/1	57	SYNONYMOUS_CODING	LOW	None	0.58387	0.58390	0.35760				None None	None None None None	ABCB1\|0.831468236\|5.08%
ABCB4
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	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_92.variant37	7	rs1202283 dbSNP Clinvar	87082292	766.93	G	A	PASS	0/1	44	SYNONYMOUS_CODING	LOW	None	0.34784	0.34780	0.40412				None None	None None None None	ABCB4\|0.238504845\|32.55%
ABCB5
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	combined sample_92.variant37	7	rs62453384 dbSNP Clinvar	20762646	597.31	G	T	PASS	0/1	40	NON_SYNONYMOUS_CODING	MODERATE	None	0.23223	0.23220	0.29909	0.00	0.88		None None	None None None None	ABCB5\|0.12579132\|46.5%
	View	combined sample_92.variant37	7	rs10254317 dbSNP Clinvar	20768013	3105.2	G	A	PASS	0/1	129	SYNONYMOUS_CODING	LOW	None	0.59605	0.59600	0.47801				None None	None None None None	ABCB5\|0.12579132\|46.5%
	View	combined sample_92.variant37	7	rs6461515 dbSNP Clinvar	20778646	1522.49	G	A	PASS	1/1	66	NON_SYNONYMOUS_CODING	MODERATE	None	0.75679	0.75680	0.22620	0.13	0.34		None None	None None None None	ABCB5\|0.12579132\|46.5%
ABCF2
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	combined sample_92.variant37	7	rs6949587 dbSNP Clinvar	150916228	2740.48	G	A	PASS	1/1	106	SYNONYMOUS_CODING	LOW	None	0.41933	0.41930	0.34822				None None	None None None None	ABCF2\|0.445512851\|18.39%
	View	combined sample_92.variant37	7	rs6464133 dbSNP Clinvar	150921950	5442.16	A	G	PASS	1/1	252	SYNONYMOUS_CODING	LOW	None	0.73902	0.73900	0.28925				None None	None None None None	ABCF2\|0.445512851\|18.39%
ABHD11
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	combined sample_92.variant37	7	rs6460052 dbSNP Clinvar	73151644	517.47	A	G	PASS	1/1	124	SYNONYMOUS_CODING	LOW	None	0.60463	0.60460	0.41458				None None	None None None None	ABHD11\|0.015871051\|76.55%