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Genes:
ABCA13, ABCB1, ABCB4, ABCB5, ABCB8, ABCF2, ABHD11, AC021218.2, ACTR3C, ADAM22, ADAP1, ADCY1, AEBP1, AGAP3, AGBL3, AGR2, AHCYL2, AHR, AKAP9, AKR1B10, AMPH, AMZ1, ANKIB1, ANKRD61, ANKRD7, ANLN, AOAH, AOC1, ARHGEF5, ARMC10, ARPC1B, ASB10, ASB15, ASNS, ASZ1, ATG9B, ATP6V0A4, ATP6V1F, AUTS2, AVL9, AZGP1, BAZ1B, BBS9, BLACE, BLVRA, BMPER, BRAF, BRAT1, C7orf25, C7orf31, C7orf57, C7orf63, C7orf72, CACNA2D1, CADPS2, CALCR, CALD1, CAMK2B, CAPZA2, CARD11, CASP2, CAV1, CCDC129, CCDC132, CCDC136, CCDC146, CCL24, CCM2, CCT6A, CCZ1, CDCA7L, CDHR3, CDK13, CFTR, CHN2, CHPF2, CHST12, CLCN1, CLIP2, CNOT4, COBL, COG5, COL1A2, COL26A1, COL28A1, CPA1, CPA2, CPA4, CPA5, CPED1, CPVL, CRCP, CREB3L2, CROT, CRYGN, CTAGE4, CTAGE6, CTAGE8, CUX1, CYP2W1, CYP3A7, CYTH3, DAGLB, DDC, DDX56, DENND2A, DFNA5, DGKB, DGKI, DMTF1, DNAH11, DNAJB6, DNAJB9, DNAJC30, DPP6, DTX2, EEPD1, EGFR, EIF2AK1, EIF3B, EN2, EPDR1, EPHA1, EPHB4, ERV3-1, ERVW-1, ESYT2, ETV1, EXOC4, FAM115C, FAM126A, FAM185A, FAM220A, FAM221A, FAM71F1, FBXL13, FBXL18, FERD3L, FKBP9, FLNC, FOXK1, FZD1, GAL3ST4, GALNTL5, GCC1, GET4, GIGYF1, GIMAP2, GIMAP6, GIMAP7, GIMAP8, GLCCI1, GLI3, GNAT3, GPC2, GPNMB, GPR141, GPR37, GPR85, GRB10, GRID2IP, GSAP, GTF2IRD1, GTF2IRD2, GTF2IRD2B, GTPBP10, GUSB, HDAC9, HEATR2, HECW1, HEPACAM2, HERPUD2, HIP1, HOXA1, HOXA4, HOXA7, HUS1, ICA1, IGFBP1, IGFBP3, IKZF1, IL6, ING3, INMT, INTS1, IQCE, IRF5, ISPD, ITGB8, KCNH2, KDELR2, KDM7A, KIAA0895, KIAA1147, KIAA1549, KLF14, KLHL7, KLRG2, KMT2C, KMT2E, KPNA7, KRBA1, KRIT1, LAMB1, LAMTOR4, LANCL2, LFNG, LIMK1, LMBR1, LMOD2, LMTK2, LRGUK, LRRC17, LRRC4, LRRC61, LRRC72, LRRD1, LRWD1, LSM5, LUC7L2, MACC1, MAD1L1, MAGI2, MCM7, MDFIC, MDH2, MEOX2, MET, METTL2B, MGAM, MICALL2, MIOS, MLXIPL, MPP6, MRPL32, MTURN, MUC12, MUC17, MUC3A, MYL7, MYO1G, NACAD, NAMPT, NAPEPLD, NCAPG2, NCF1, NFE2L3, NME8, NOBOX, NOD1, NOM1, NOS3, NPC1L1, NPSR1, NPVF, NPY, NRCAM, NT5C3A, NUB1, NUP205, OGDH, OR10AC1P, OR2A1, OR2A14, OR2A2, OR2A25, OR2A5, OR2A7, OR2AE1, OR6B1, OSBPL3, PAPOLB, PARP12, PAX4, PAXIP1, PCLO, PDE1C, PDK4, PEX1, PHTF2, PIK3CG, PKD1L1, PLXNA4, PMPCB, PMS2, PODXL, POLR2J3, POM121, POM121C, POM121L12, POMZP3, PON2, PON3, POR, POT1, POU6F2, PPP1R3A, PPP1R9A, PRKAR1B, PRKRIP1, PRR15, PRRT4, PRSS1, PRSS37, PSMC2, PSMG3, PSPH, PTPN12, PTPRN2, PTPRZ1, RADIL, RAPGEF5, RARRES2, RASA4, RASA4B, RBAK, RBAK-RBAKDN, RBM33, RELN, REPIN1, RHBDD2, RNF216, RNF32, RP11-1220K2.2, RP11-514P8.7, RP9, RSBN1L, RSPH10B, RSPH10B2, SAMD9, SAMD9L, SCIN, SDK1, SEMA3A, SEMA3C, SEMA3D, SEMA3E, SFRP4, SGCE, SLC12A9, SLC13A4, SLC25A13, SLC26A3, SLC35B4, SLC37A3, SLC4A2, SMO, SMURF1, SND1, SNX13, SNX8, SP8, SPAM1, SPDYE1, SRCRB4D, SRRM3, SRRT, STAG3, STEAP1B, STEAP2, STEAP4, STK17A, STK31, STX1A, STYXL1, SUGCT, SUMF2, SUN1, SVOPL, TAS2R16, TAS2R3, TAS2R38, TAS2R4, TAS2R41, TAS2R5, TAS2R60, TBRG4, TBXAS1, TECPR1, TES, TFPI2, THSD7A, TMED4, TMEM106B, TMEM120A, TMEM130, TMEM140, TMEM176A, TMEM176B, TMEM178B, TMEM184A, TMEM209, TMEM213, TMEM229A, TMEM60, TNPO3, TNRC18, TNS3, TRBC2, TRBV19, TRBV2, TRBV20-1, TRBV4-1, TRBV4-2, TRBV5-4, TRBV5-5, TRBV5-6, TRBV6-5, TRBV6-7, TRBV6-8, TRBV7-4, TRBV7-6, TRGC1, TRGC2, TRGV3, TRGV4, TRGV5, TRGV9, TRIM4, TRIM50, TRIM74, TRIP6, TRRAP, TSGA13, TSPAN12, TSPAN13, TYW1, TYW1B, UBE3C, UFSP1, UPK3B, URGCP, USP42, VIPR2, VKORC1L1, VOPP1, VWC2, VWDE, WASL, WBSCR27, WBSCR28, WDR60, WDR86, WDR91, WEE2, WIPF3, WIPI2, ZAN, ZBED6CL, ZC3HAV1, ZC3HC1, ZNF107, ZNF117, ZNF138, ZNF212, ZNF273, ZNF282, ZNF3, ZNF398, ZNF425, ZNF479, ZNF680, ZNF713, ZNF736, ZNF746, ZNF775, ZNF777, ZNF853, ZNF862, ZP3,

+ Genes associated with diseases 99

Genes at Omim

ABCB1, ABCB4, ADAM22, ADCY1, AEBP1, AHR, AKAP9, ANLN, ARPC1B, ASB10, ASNS, ATP6V0A4, BLVRA, BMPER, BRAF, BRAT1, CALCR, CAMK2B, CARD11, CAV1, CDK13, CFTR, CLCN1, COG5, COL1A2, CUX1, DDC, DNAH11, DNAJB6, DPP6, EGFR, EPHB4, FAM126A, FLNC, GLCCI1, GLI3, GPNMB, GUSB, HOXA1, IKZF1, IL6, IQCE, IRF5, ISPD, KCNH2, KLHL7, KMT2C, LAMB1, LFNG, LMBR1, MAD1L1, MAGI2, MDH2, MET, NCF1, NME8, NOBOX, NOS3, NPC1L1, NPSR1, NT5C3A, NUP205, OGDH, PAX4, PCLO, PDE1C, PEX1, PKD1L1, PMPCB, PMS2, PON2, POR, POT1, POU6F2, PPP1R3A, PRSS1, PSPH, PTPN12, RELN, RNF216, RP9, SAMD9, SAMD9L, SEMA3A, SEMA3E, SFRP4, SGCE, SLC25A13, SLC26A3, STAG3, TAS2R16, TAS2R38, TBXAS1, TMEM106B, TNPO3, TSPAN12, WDR60, WEE2, ZP3,

ABCB1	{Inflammatory bowel disease 13}, 612244 (3) {Colchicine resistance}, 120080 (3)
ABCB4	Gallbladder disease 1, 600803 (3) Cholestasis, intrahepatic, of pregnancy, 3, 614972 (3) Cholestasis, progressive familial intrahepatic 3, 602347 (3)
ADAM22	?Epileptic encephalopathy, early infantile, 61, 617933 (3)
ADCY1	?Deafness, autosomal recessive 44, 610154 (3)
AEBP1	Ehlers-Danlos syndrome, classic-like, 2, 618000 (3)
AHR	?Retinitis pigmentosa 85, 618345 (3)
AKAP9	?Long QT syndrome-11, 611820 (3)
ANLN	Focal segmental glomerulosclerosis 8, 616032 (3)
ARPC1B	Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease, 617718 (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)
CDK13	Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360 (3)
CFTR	{Hypertrypsinemia, neonatal} (3) Congenital bilateral absence of vas deferens, 277180 (3) Cystic fibrosis, 219700 (3) {Pancreatitis, hereditary}, 167800 (3) Sweat chloride elevation without CF (3) {Bronchiectasis with or without elevated sweat chloride 1, modifier of}, 211400 (3)
CLCN1	Myotonia congenita, dominant, 160800 (3) Myotonia congenita, recessive, 255700 (3) Myotonia levior, recessive (3)
COG5	Congenital disorder of glycosylation, type IIi, 613612 (3)
COL1A2	{Osteoporosis, postmenopausal}, 166710 (3) Ehlers-Danlos syndrome, arthrochalasia type, 2, 617821 (3) Ehlers-Danlos syndrome, cardiac valvular type, 225320 (3) Osteogenesis imperfecta, type II, 166210 (3) Osteogenesis imperfecta, type III, 259420 (3) Osteogenesis imperfecta, type IV, 166220 (3)
CUX1	Global developmental delay with or without impaired intellectual development, 618330 (3)
DDC	Aromatic L-amino acid decarboxylase deficiency, 608643 (3)
DNAH11	Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884 (3)
DNAJB6	Muscular dystrophy, limb-girdle, autosomal dominant 1, 603511 (3)
DPP6	{Ventricular fibrillation, paroxysmal familial, 2}, 612956 (3) Mental retardation, autosomal dominant 33, 616311 (3)
EGFR	Adenocarcinoma of lung, response to tyrosine kinase inhibitor in, 211980 (3) {Nonsmall cell lung cancer, susceptibility to}, 211980 (3) ?Inflammatory skin and bowel disease, neonatal, 2, 616069 (3) Nonsmall cell lung cancer, response to tyrosine kinase inhibitor in, 211980 (3)
EPHB4	Capillary malformation-arteriovenous malformation 2, 618196 (3) Lymphatic malformation 7, 617300 (3)
FAM126A	Leukodystrophy, hypomyelinating, 5, 610532 (3)
FLNC	Cardiomyopathy, familial hypertrophic, 26 (3) Cardiomyopathy, familial restrictive 5, 617047 (3) Myopathy, distal, 4, 614065 (3) Myopathy, myofibrillar, 5, 609524 (3)
GLCCI1	{Glucocorticoid therapy, response to}, 614400 (3)
GLI3	{Hypothalamic hamartomas, somatic}, 241800 (3) Greig cephalopolysyndactyly syndrome, 175700 (3) Pallister-Hall syndrome, 146510 (3) Polydactyly, postaxial, types A1 and B, 174200 (3) Polydactyly, preaxial, type IV, 174700 (3)
GPNMB	Amyloidosis, primary localized cutaneous, 3, 617920 (3)
GUSB	Mucopolysaccharidosis VII, 253220 (3)
HOXA1	Athabaskan brainstem dysgenesis syndrome, 601536 (3) Bosley-Salih-Alorainy syndrome, 601536 (3)
IKZF1	Immunodeficiency, common variable, 13, 616873 (3)
IL6	{Intracranial hemorrhage in brain cerebrovascular malformations, susceptibility to}, 108010 (3) {Kaposi sarcoma, susceptibility to}, 148000 (3) {Rheumatoid arthritis, systemic juvenile}, 604302 (3) {Crohn disease-associated growth failure}, 266600 (3) {Diabetes, susceptibility to}, 222100, 125853 (3)
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)
KLHL7	Cold-induced sweating syndrome 3, 617055 (3) Retinitis pigmentosa 42, 612943 (3)
KMT2C	Kleefstra syndrome 2, 617768 (3)
LAMB1	Lissencephaly 5, 615191 (3)
LFNG	Spondylocostal dysostosis 3, autosomal recessive, 609813 (3)
LMBR1	Acheiropody, 200500 (3) Hypoplastic or aplastic tibia with polydactyly, 188740 (3) Laurin-Sandrow syndrome, 135750 (3) Polydactyly, preaxial type II, 174500 (3) Syndactyly, type IV, 186200 (3) Triphalangeal thumb, type I, 174500 (3) Triphalangeal thumb-polysyndactyly syndrome, 174500 (3)
MAD1L1	Lymphoma, somatic (3) Prostate cancer, somatic, 176807 (3)
MAGI2	Nephrotic syndrome, type 15, 617609 (3)
MDH2	Epileptic encephalopathy, early infantile, 51, 617339 (3)
MET	Hepatocellular carcinoma, childhood type, somatic, 114550 (3) {Osteofibrous dysplasia, susceptibility to}, 607278 (3) ?Deafness, autosomal recessive 97, 616705 (3) Renal cell carcinoma, papillary, 1, familial and somatic, 605074 (3)
NCF1	Chronic granulomatous disease due to deficiency of NCF-1, 233700 (3)
NME8	Ciliary dyskinesia, primary, 6, 610852 (3)
NOBOX	Premature ovarian failure 5, 611548 (3)
NOS3	{Hypertension, pregnancy-induced}, 189800 (3) {Hypertension, susceptibility to}, 145500 (3) {Ischemic stroke, susceptibility to}, 601367 (3) {Placental abruption} (3) {Alzheimer disease, late-onset, susceptibility to}, 104300 (3) {Coronary artery spasm 1, susceptibility to} (3)
NPC1L1	[Ezetimibe, nonresponse to], 617966 (3) [Low density lipoprotein cholesterol level QTL 7], 617966 (3)
NPSR1	{Asthma, susceptibility to, 2}, 608584 (3)
NT5C3A	Anemia, hemolytic, due to UMPH1 deficiency, 266120 (3)
NUP205	?Nephrotic syndrome, type 13, 616893 (3)
OGDH	Alpha-ketoglutarate dehydrogenase deficiency, 203740 (1)
PAX4	Diabetes mellitus, type 2, 125853 (3) Maturity-onset diabetes of the young, type IX, 612225 (3) {Diabetes mellitus, ketosis-prone, susceptibility to}, 612227 (3)
PCLO	?Pontocerebellar hypoplasia, type 3, 608027 (3)
PDE1C	?Deafness, autosomal dominant 74, 618140 (3)
PEX1	Heimler syndrome 1, 234580 (3) Peroxisome biogenesis disorder 1A (Zellweger), 214100 (3) Peroxisome biogenesis disorder 1B (NALD/IRD), 601539 (3)
PKD1L1	Heterotaxy, visceral, 8, autosomal, 617205 (3)
PMPCB	Multiple mitochondrial dysfunctions syndrome 6, 617954 (3)
PMS2	Colorectal cancer, hereditary nonpolyposis, type 4, 614337 (3) Mismatch repair cancer syndrome, 276300 (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)
RELN	Lissencephaly 2 (Norman-Roberts type), 257320 (3) {Epilepsy, familial temporal lobe, 7}, 616436 (3)
RNF216	Cerebellar ataxia and hypogonadotropic hypogonadism, 212840 (3)
RP9	?Retinitis pigmentosa 9, 180104 (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)
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)
ZP3	Oocyte maturation defect 3, 617712 (3)

Genes at Clinical Genomics Database

ABCB1, ABCB4, ADCY1, AKAP9, ANLN, ASNS, ATP6V0A4, AUTS2, BBS9, BLVRA, BMPER, BRAF, BRAT1, CARD11, CAV1, CCM2, CFTR, CLCN1, COG5, COL1A2, DDC, DFNA5, DNAH11, DNAJB6, DPP6, EGFR, FAM126A, FLNC, GLI3, GUSB, HOXA1, IKZF1, ISPD, KCNH2, KLHL7, KRIT1, LAMB1, LFNG, LMBR1, MET, NCF1, NME8, NOBOX, NPC1L1, NT5C3A, NUP205, PAX4, PEX1, PMS2, POR, POT1, POU6F2, PPP1R3A, PRSS1, PSPH, RELN, RNF216, RP9, SAMD9, SEMA3A, SEMA3E, SGCE, SLC25A13, SLC26A3, STAG3, SUGCT, TAS2R38, TBXAS1, TNPO3, TRRAP, TSPAN12, WDR60,

ABCB1	Colchicine metabolism, association with
ABCB4	Cholestasis, progressive familial intrahepatic 3 Low phospholipid-associated cholelithiasis 1 Cholestasis, oral contraceptives induced Cholestasis, familial intrahepatic, of pregnancy Gallbladder disease 1
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
AUTS2	Mental retardation, autosomal dominant 26
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
CCM2	Cerebral cavernous malformations 2
CFTR	Cystic fibrosis
CLCN1	Myotonia congenita, autosomal dominant Myotonia congenita, autosomal recessive, Myotonia levior
COG5	Congenital disorder of glycosylation, type IIi
COL1A2	Ehlers-Danlos syndrome, cardiac valvular form
DDC	Aromatic l-amino acid decarboxylase deficiency
DFNA5	Deafness, autosomal dominant 5
DNAH11	Ciliary dyskinesia, primary, 7
DNAJB6	Muscular dystrophy, limb-girdle, type 1E
DPP6	Ventricular fibrillation, paroxysmal familial, 2
EGFR	Acute myeloid leukemia, familial Lung cancer, familial, susceptibilty to Inflammatory skin and bowel disease, neonatal, 2
FAM126A	Leukodystrophy, hypomyelinating, 5
FLNC	Myopathy, distal, 4 Myopathy, myofibrillar, 5
GLI3	Acrocallosal syndrome Pallister-Hall syndrome Grieg cephalopolysndactyly syndrome Postaxial polydactyly type A1 Polydactyly, preaxial, type IV Polydactyly, postaxial, types A1 and B
GUSB	Mucopolysaccharidosis type VII
HOXA1	Athabaskan brainstem dysgenesis syndrome Bosley-Salih-Alorainy syndrome
IKZF1	Immunodeficiency, common variable, 13
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
KLHL7	Retinitis pigmentosa 42
KRIT1	Cerebral cavernous malformations 1
LAMB1	Lissencephaly 5
LFNG	Spondylocostal dysostosis, autosomal recessive 3
LMBR1	Acheiropody Syndactyly, type IV Laurin-Sandrow syndrome Triphalangeal thumb, type I Polydactyly, preaxial type II Triphalangeal thumb-polysyndactyly syndrome Tibial aplasia/hypoplasia Hypoplastic or aplastic tibia with polydactyly
MET	Renal cell carcinoma, papillary Deafness, autosomal recessive 97
NCF1	Chronic granulomatous disease, autosomal recessive, cytochrome b-positive, type I
NME8	Ciliary dyskinesia, primary, 6
NOBOX	Premature ovarian failure 5
NPC1L1	Ezetimibe, nonresponse to
NT5C3A	Uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to
NUP205	Nephrotic syndrome, type 13
PAX4	Diabetes mellitus
PEX1	Heimler syndrome 1
PMS2	Colorectal cancer, hereditary nonpolyposis type 4 Mismatch repair cancer syndrome
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
RELN	Epilepsy, familial temporal lobe, 7 Lissencephaly 2
RNF216	Cerebellar ataxia and hypogonadotropic hypogonadism (Gordon Holmes syndrome)
RP9	Retinitis pigmentosa 9
SAMD9	Tumoral calcinosis, normophosphatemic
SEMA3A	Hypogonadotropic hypogonadism 16 with or without anosmia
SEMA3E	CHARGE syndrome
SGCE	Dystonia 11, myoclonic
SLC25A13	Citrin deficiency
SLC26A3	Diarrhea 1, secretory chloride, congenital
STAG3	Premature ovarian failure 8
SUGCT	Glutaric aciduria III
TAS2R38	Thiourea tasting Phenylthiocarbamide tasting
TBXAS1	Ghosal hematodiaphyseal syndrome
TNPO3	Muscular dystrophy, limb-girdle, type 1F
TRRAP	Schizophrenia
TSPAN12	Exudative vitreoretinopathy 5 Retinal dysplasia and severe familial exudative vitreoretinopathy
WDR60	Short -rib thoracic dysplasia 8 with or without polydactyly

Genes at HGMD

Summary

Number of Variants: 4762
Number of Genes: 470

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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	4k20002_01 gatk	7	.	19913	42.77	C	T	.	0/1	5	None	None	None							None None	None None None None	None
	View	4k20002_01 gatk	7	rs111352767 dbSNP Clinvar	31439	455.77	T	A	.	0/1	51	None	None	None	0.29872	0.29870					None None	None None None None	None
	View	4k20002_01 gatk	7	rs7457923 dbSNP Clinvar	35326	586.77	C	T	.	0/1	34	None	None	None	0.30152	0.30150					None None	None None None None	None
	View	4k20002_01 gatk	7	rs534504465 dbSNP Clinvar	35442	1146.73	T	TT...	.	1/2	32	None	None	None	0.37540						None None	None None None None	None
	View	4k20002_01 gatk	7	rs7457501 dbSNP Clinvar	35489	623.77	G	A	.	0/1	39	None	None	None	0.28395	0.28390					None None	None None None None	None
	View	4k20002_01 gatk	7	rs11765616 dbSNP Clinvar	36127	227.77	C	G	.	0/1	20	None	None	None	0.25799	0.25800					None None	None None None None	None
	View	4k20002_01 gatk	7	rs533400211 dbSNP Clinvar	36270	320.98	A	C	.	1/1	14	None	None	None	0.79613	0.79610					None None	None None None None	None
	View	4k20002_01 gatk	7	rs34223855 dbSNP Clinvar	538277	411.77	G	C	.	0/1	29	None	None	None	0.30731	0.30730	0.31954				None None	None None None None	PDGFA\|0.120955168\|47.28%
	View	4k20002_01 gatk	7	rs35782510 dbSNP Clinvar	538284	388.77	T	C	.	0/1	26	None	None	None	0.30471	0.30470	0.31735				None None	None None None None	PDGFA\|0.120955168\|47.28%
	View	4k20002_01 gatk	7	rs12720025 dbSNP Clinvar	538348	107.77	A	T	.	0/1	9	None	None	None	0.30471	0.30470					None None	None None None None	PDGFA\|0.120955168\|47.28%
	View	4k20002_01 gatk	7	rs62433334 dbSNP Clinvar	550737	540.77	G	C	.	0/1	31	None	None	None	0.51038	0.51040					None None	None None None None	PDGFA\|0.120955168\|47.28%
	View	4k20002_01 gatk	7	rs9692018 dbSNP Clinvar	551946	1011.77	T	C	.	0/1	100	None	None	None	0.81929	0.81930	0.12250				None None	None None None None	PDGFA\|0.120955168\|47.28%
	View	4k20002_01 gatk	7	rs78339681 dbSNP Clinvar	590007	858.77	C	A	.	0/1	70	None	None	None	0.03634	0.03634					None None	None None None None	PRKAR1B\|0.067430622\|58.06%
PRKAR1B
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	4k20002_01 gatk	7	rs28488947 dbSNP Clinvar	590148	695.77	G	A	.	0/1	46	SYNONYMOUS_CODING	LOW	SILENT	0.04273	0.04273	0.01191				None None	None None None None	PRKAR1B\|0.067430622\|58.06%
	View	4k20002_01 gatk	7	rs11545042 dbSNP Clinvar	590199	526.77	A	G	.	0/1	38	SYNONYMOUS_CODING	LOW	SILENT	0.15875	0.15870	0.14392				None None	None None None None	PRKAR1B\|0.067430622\|58.06%
	View	4k20002_01 gatk	7	rs28626752 dbSNP Clinvar	590229	747.77	T	C	.	0/1	44	SYNONYMOUS_CODING	LOW	SILENT	0.04872	0.04872	0.01706				None None	None None None None	PRKAR1B\|0.067430622\|58.06%
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	4k20002_01 gatk	7	rs28585978 dbSNP Clinvar	590247	694.77	T	G	.	0/1	38	None	None	None	0.04852	0.04852	0.01012				None None	None None None None	PRKAR1B\|0.067430622\|58.06%
	View	4k20002_01 gatk	7	rs201668077 dbSNP Clinvar	590284	454.73	A	AGGC	.	0/1	30	None	None	None	0.04852	0.04852	0.01419				None None	None None None None	PRKAR1B\|0.067430622\|58.06%
	View	4k20002_01 gatk	7	rs28751583 dbSNP Clinvar	590306	453.77	T	A	.	0/1	25	None	None	None	0.03954	0.03954					None None	None None None None	PRKAR1B\|0.067430622\|58.06%
	View	4k20002_01 gatk	7	rs71518309 dbSNP Clinvar	591125	632.77	C	G	.	0/1	34	None	None	None	0.58287	0.58290	0.41295				None None	None None None None	PRKAR1B\|0.067430622\|58.06%
	View	4k20002_01 gatk	7	rs62431411 dbSNP Clinvar	618855	308.77	T	C	.	0/1	33	None	None	None	0.35363	0.35360	0.42307				None None	None None None None	PRKAR1B\|0.067430622\|58.06%
	View	4k20002_01 gatk	7	rs62431412 dbSNP Clinvar	618869	483.77	G	A	.	0/1	41	None	None	None	0.35363	0.35360	0.42299				None None	None None None None	PRKAR1B\|0.067430622\|58.06%
PRKAR1B
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	4k20002_01 gatk	7	rs3211362 dbSNP Clinvar	618938	1022.77	A	G	.	0/1	80	SYNONYMOUS_CODING	LOW	SILENT	0.36362	0.36360	0.43307				None None	None None None None	PRKAR1B\|0.067430622\|58.06%
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	4k20002_01 gatk	7	rs9330368 dbSNP Clinvar	624221	458.77	T	G	.	0/1	34	None	None	None			0.32505				None None	None None None None	PRKAR1B\|0.067430622\|58.06%
	View	4k20002_01 gatk	7	rs9330367 dbSNP Clinvar	624344	92.77	C	T	.	0/1	10	None	None	None	0.66873	0.66870					None None	None None None None	PRKAR1B\|0.067430622\|58.06%
	View	4k20002_01 gatk	7	rs13221342 dbSNP Clinvar	624366	64.77	G	A	.	0/1	7	None	None	None	0.63239	0.63240					None None	None None None None	PRKAR1B\|0.067430622\|58.06%
	View	4k20002_01 gatk	7	rs79037648 dbSNP Clinvar	720119	307.77	C	G	.	0/1	31	None	None	None	0.15915	0.15910					None None	None None None None	PRKAR1B\|0.067430622\|58.06%
	View	4k20002_01 gatk	7	rs4074132 dbSNP Clinvar	751220	185.77	G	A	.	0/1	22	None	None	None	0.43550	0.43550					None None	None None None None	PRKAR1B\|0.067430622\|58.06%
	View	4k20002_01 gatk	7	rs62432205 dbSNP Clinvar	766168	103.03	A	C	.	1/1	4	None	None	None	0.96985	0.96980					None None	None None None None	PRKAR1B\|0.067430622\|58.06%
	View	4k20002_01 gatk	7	rs62432212 dbSNP Clinvar	780687	429.77	T	C	.	1/1	13	None	None	None	0.99561	0.99560					None None	None None None None	DNAAF5\|0.006014089\|84.58%
	View	4k20002_01 gatk	7	rs6943174 dbSNP Clinvar	780859	134.77	T	G	.	0/1	18	None	None	None	0.39157	0.39160					None None	None None None None	DNAAF5\|0.006014089\|84.58%
	View	4k20002_01 gatk	7	rs6943337 dbSNP Clinvar	780980	3509.77	T	G	.	1/1	107	None	None	None	0.75899	0.75900	0.20817				None None	None None None None	DNAAF5\|0.006014089\|84.58%
	View	4k20002_01 gatk	7	rs6951032 dbSNP Clinvar	794092	96.77	C	T	.	0/1	8	None	None	None	0.18730	0.18730					None None	None None None None	DNAAF5\|0.006014089\|84.58%
	View	4k20002_01 gatk	7	rs34761279 dbSNP Clinvar	794471	1814.77	A	G	.	1/1	52	None	None	None	0.82668	0.82670	0.16128				None None	None None None None	DNAAF5\|0.006014089\|84.58%
	View	4k20002_01 gatk	7	rs142752861,rs71020510 dbSNP Clinvar	801634	1310.73	T	TT...	.	1/1	27	None	None	None	0.82468	0.82470					None None	None None None None	DNAAF5\|0.006014089\|84.58%
	View	4k20002_01 gatk	7	rs4495324 dbSNP Clinvar	803342	195.77	G	A	.	0/1	10	None	None	None	0.39617	0.39620					None None	None None None None	DNAAF5\|0.006014089\|84.58%
HEATR2
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	4k20002_01 gatk	7	rs4720951 dbSNP Clinvar	810219	1366.77	T	C	.	0/1	114	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.39137	0.39140	0.43195	0.02	0.00		None None	None None None None	DNAAF5\|0.006014089\|84.58%
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	4k20002_01 gatk	7	rs4719279 dbSNP Clinvar	813618	1601.77	T	C	.	1/1	42	None	None	None	0.74661	0.74660					None None	None None None None	DNAAF5\|0.006014089\|84.58%
	View	4k20002_01 gatk	7	rs62432869 dbSNP Clinvar	813650	2376.77	G	A	.	1/1	65	None	None	None	0.63658	0.63660	0.40443				None None	None None None None	DNAAF5\|0.006014089\|84.58%
	View	4k20002_01 gatk	7	rs6973746 dbSNP Clinvar	813867	605.77	C	G	.	0/1	34	None	None	None	0.65176	0.65180	0.28362				None None	None None None None	DNAAF5\|0.006014089\|84.58%
	View	4k20002_01 gatk	7	rs34943122 dbSNP Clinvar	814612	1273.77	G	A	.	1/1	35	None	None	None	0.66514	0.66510	0.37698				None None	None None None None	DNAAF5\|0.006014089\|84.58%
HEATR2
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	4k20002_01 gatk	7	rs3922641 dbSNP Clinvar	814788	4432.77	G	A	.	1/1	121	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.66873	0.66870	0.37306	1.00	0.00		None None	None None None None	DNAAF5\|0.006014089\|84.58%
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	4k20002_01 gatk	7	rs75649993 dbSNP Clinvar	819863	200.77	C	G	.	0/1	17	None	None	None	0.01058	0.01058					None None	None None None None	DNAAF5\|0.006014089\|84.58%
	View	4k20002_01 gatk	7	rs67721251 dbSNP Clinvar	825114	1654.77	T	C	.	1/1	44	None	None	None	0.74101	0.74100	0.21582				None None	None None None None	DNAAF5\|0.006014089\|84.58%
	View	4k20002_01 gatk	7	rs62432897 dbSNP Clinvar	825429	15.65	A	G	.	1/1	1	None	None	None	0.82728	0.82730					None None	None None None None	DNAAF5\|0.006014089\|84.58%
SUN1
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	4k20002_01 gatk	7	rs6461378 dbSNP Clinvar	881668	1559.77	C	T	.	0/1	122	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.53295	0.53290	0.47546	0.59	0.56		None None	None None None None	SUN1\|0.007269788\|83.24%
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	4k20002_01 gatk	7	rs34925195,rs541657101,rs796205141 dbSNP Clinvar	882829	707.73	GT	G	.	0/1	78	None	None	None		0.38480					None None	None None None None	SUN1\|0.007269788\|83.24%
	View	4k20002_01 gatk	7	rs6970511 dbSNP Clinvar	882895	406.77	C	G	.	0/1	56	None	None	None	0.49521	0.49520	0.44252				None None	None None None None	SUN1\|0.007269788\|83.24%
	View	4k20002_01 gatk	7	rs7792674 dbSNP Clinvar	890978	496.77	T	C	.	0/1	61	None	None	None	0.00060	0.49360	0.43568				None None	None None None None	SUN1\|0.007269788\|83.24%
	View	4k20002_01 gatk	7	rs10628483,rs397771104 dbSNP Clinvar	891184	1582.73	C	CGAT	.	1/1	36	None	None	None	0.77855	0.77860					None None	None None None None	SUN1\|0.007269788\|83.24%
	View	4k20002_01 gatk	7	rs4605959 dbSNP Clinvar	893297	925.77	G	C	.	0/1	59	None	None	None	0.48902	0.48900	0.42138				None None	None None None None	SUN1\|0.007269788\|83.24%
SUN1
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	4k20002_01 gatk	7	rs10950789 dbSNP Clinvar	897492	2412.77	A	G	.	0/1	133	SYNONYMOUS_CODING	LOW	SILENT	0.43690	0.43690	0.37763				None None	None None None None	SUN1\|0.007269788\|83.24%
	View	4k20002_01 gatk	7	rs59910530 dbSNP Clinvar	897496	2373.77	G	A	.	0/1	134	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.16833	0.16830	0.13634	1.00	0.00		None None	None None None None	SUN1\|0.007269788\|83.24%
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	4k20002_01 gatk	7	rs12700166 dbSNP Clinvar	899710	567.77	A	C	.	0/1	46	None	None	None	0.50639	0.50640					None None	None None None None	SUN1\|0.007269788\|83.24%
	View	4k20002_01 gatk	7	rs76105981 dbSNP Clinvar	900905	45.77	C	G	.	0/1	5	None	None	None	0.14577	0.14580					None None	None None None None	SUN1\|0.007269788\|83.24%
	View	4k20002_01 gatk	7	rs4721952 dbSNP Clinvar	905786	827.77	A	G	.	1/1	21	None	None	None	0.66973	0.66970					None None	None None None None	SUN1\|0.007269788\|83.24%
	View	4k20002_01 gatk	7	rs4722034 dbSNP Clinvar	912755	1081.77	C	T	.	1/1	29	None	None	None	0.77436	0.77440					None None	None None None None	SUN1\|0.007269788\|83.24%
	View	4k20002_01 gatk	7	rs77660844 dbSNP Clinvar	925866	411.77	C	T	.	0/1	18	None	None	None	0.15236	0.15240					None None	None None None None	SUN1\|0.007269788\|83.24%,GET4\|0.454008302\|17.98%
	View	4k20002_01 gatk	7	rs10267796 dbSNP Clinvar	926077	56.74	G	A	.	1/1	2	None	None	None	0.52995	0.53000					None None	None None None None	SUN1\|0.007269788\|83.24%,GET4\|0.454008302\|17.98%
GET4
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	4k20002_01 gatk	7	rs4722203 dbSNP Clinvar	926827	127.03	T	C	.	1/1	4	None	None	None	1.00000	1.00000					None None	None None None None	SUN1\|0.007269788\|83.24%,GET4\|0.454008302\|17.98%
	View	4k20002_01 gatk	7	rs13171 dbSNP Clinvar	930689	1258.77	C	T	.	0/1	86	SYNONYMOUS_CODING	LOW	SILENT	0.20108	0.20110	0.14393				None None	None None None None	SUN1\|0.007269788\|83.24%,GET4\|0.454008302\|17.98%
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	4k20002_01 gatk	7	rs200395595 dbSNP Clinvar	931864	506.73	CAGA	C	.	0/1	26	None	None	None	0.00659	0.00659	0.00104				None None	None None None None	SUN1\|0.007269788\|83.24%,GET4\|0.454008302\|17.98%
	View	4k20002_01 gatk	7	rs117135055 dbSNP Clinvar	938925	859.77	G	C	.	0/1	60	None	None	None	0.00599	0.00599					None None	None None None None	ADAP1\|0.029140217\|69.81%,COX19\|0.030938283\|68.99%
	View	4k20002_01 gatk	7	rs34786986 dbSNP Clinvar	939630	268.77	G	A	.	0/1	22	None	None	None	0.17113	0.17110					None None	None None None None	ADAP1\|0.029140217\|69.81%,COX19\|0.030938283\|68.99%
ADAP1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	4k20002_01 gatk	7	rs10256887 dbSNP Clinvar	940181	557.77	C	T	.	0/1	56	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.86701	0.86700	0.12406	1.00	0.00		None None	None None None None	ADAP1\|0.029140217\|69.81%,COX19\|0.030938283\|68.99%
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	4k20002_01 gatk	7	rs113839920 dbSNP Clinvar	940258	786.73	G	GG...	.	0/1	61	None	None	None	0.46725	0.46730					None None	None None None None	ADAP1\|0.029140217\|69.81%,COX19\|0.030938283\|68.99%
	View	4k20002_01 gatk	7	rs3824079 dbSNP Clinvar	940267	664.77	T	C	.	0/1	62	None	None	None	0.00100	0.66730	0.31586				None None	None None None None	ADAP1\|0.029140217\|69.81%,COX19\|0.030938283\|68.99%
	View	4k20002_01 gatk	7	rs13224354 dbSNP Clinvar	940298	171.77	C	G	.	0/1	36	None	None	None	0.51558	0.51560	0.33160				None None	None None None None	ADAP1\|0.029140217\|69.81%,COX19\|0.030938283\|68.99%
	View	4k20002_01 gatk	7	rs10282526 dbSNP Clinvar	943711	1712.77	T	C	.	1/1	50	None	None	None	0.39597	0.39600					None None	None None None None	ADAP1\|0.029140217\|69.81%,COX19\|0.030938283\|68.99%
	View	4k20002_01 gatk	7	rs3824077 dbSNP Clinvar	943998	642.77	C	T	.	1/1	17	None	None	None	0.77256	0.77260					None None	None None None None	ADAP1\|0.029140217\|69.81%,COX19\|0.030938283\|68.99%
	View	4k20002_01 gatk	7	rs1881121 dbSNP Clinvar	944683	2843.77	C	T	.	1/1	91	None	None	None	0.89736	0.89740	0.14769				None None	None None None None	ADAP1\|0.029140217\|69.81%,COX19\|0.030938283\|68.99%
	View	4k20002_01 gatk	7	rs10243781 dbSNP Clinvar	944874	381.77	G	A	.	0/1	20	None	None	None	0.33167	0.33170					None None	None None None None	ADAP1\|0.029140217\|69.81%,COX19\|0.030938283\|68.99%
ADAP1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	4k20002_01 gatk	7	rs3808343 dbSNP Clinvar	960450	1962.77	C	T	.	1/1	60	None	None	None	0.03634	0.03634					None None	None None None None	ADAP1\|0.029140217\|69.81%,COX19\|0.030938283\|68.99%
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	4k20002_01 gatk	7	rs745532676 dbSNP Clinvar	994843	237.77	C	T	.	0/1	22	None	None	None							None None	None None None None	ADAP1\|0.029140217\|69.81%,COX19\|0.030938283\|68.99%
ADAP1
Omim - GeneCards - NCBI
	Options	Individual	Chr	RsId	Pos	Qual	Ref	Alt	Filter	Gen	Read Depth	Effect	Impact	Func Class	1kgenomes	dbSNP	ESP6500	Sift	PP2	CADD	M-CAP	CLINVAR	HI Score
	View	4k20002_01 gatk	7	rs79805216 dbSNP Clinvar	995003	1319.77	G	C	.	0/1	114	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.05491	0.05491		0.26	0.00		None None	None None None None	ADAP1\|0.029140217\|69.81%,COX19\|0.030938283\|68.99%
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	4k20002_01 gatk	7	rs2293521 dbSNP Clinvar	1008966	870.77	C	T	.	0/1	53	None	None	None	0.05152	0.05152	0.01199				None None	None None None None	COX19\|0.030938283\|68.99%
	View	4k20002_01 gatk	7	rs2272379 dbSNP Clinvar	1012793	726.77	A	G	.	0/1	53	None	None	None	0.05152	0.05152	0.01184				None None	None None None None	COX19\|0.030938283\|68.99%
	View	4k20002_01 gatk	7	rs3735677 dbSNP Clinvar	1014943	88.28	G	A	.	1/1	3	None	None	None	0.05012	0.05012					None None	None None None None	COX19\|0.030938283\|68.99%
CYP2W1
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	4k20002_01 gatk	7	rs2272375 dbSNP Clinvar	1023013	1009.77	C	T	.	0/1	79	SYNONYMOUS_CODING	LOW	SILENT	0.36022	0.36020	0.32418				None None	None None None None	CYP2W1\|0.005308433\|85.41%
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	4k20002_01 gatk	7	rs34743661,rs397708660 dbSNP Clinvar	1023995	851.73	A	AG	.	0/1	44	None	None	None	0.64637	0.64640					None None	None None None None	CYP2W1\|0.005308433\|85.41%
	View	4k20002_01 gatk	7	rs3735689 dbSNP Clinvar	1024002	973.77	T	C	.	0/1	54	None	None	None	0.64637	0.64640	0.36209				None None	None None None None	CYP2W1\|0.005308433\|85.41%
	View	4k20002_01 gatk	7	rs3824081 dbSNP Clinvar	1024581	1559.77	T	C	.	0/1	86	None	None	None	0.59984	0.59980	0.42542				None None	None None None None	CYP2W1\|0.005308433\|85.41%
	View	4k20002_01 gatk	7	rs117425670 dbSNP Clinvar	1026647	299.77	C	T	.	0/1	23	None	None	None	0.04533	0.04533					None None	None None None None	CYP2W1\|0.005308433\|85.41%
CYP2W1
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	4k20002_01 gatk	7	rs78873069 dbSNP Clinvar	1028279	390.77	G	A	.	0/1	48	NON_SYNONYMOUS_CODING	MODERATE	MISSENSE	0.01318	0.01318	0.00039	0.69	0.01		None None	None None None None	CYP2W1\|0.005308433\|85.41%
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	4k20002_01 gatk	7	rs4720158 dbSNP Clinvar	1040325	66.77	A	G	.	0/1	6	None	None	None	0.55312	0.55310					None None	None None None None	C7orf50\|0.003676254\|87.46%
	View	4k20002_01 gatk	7	rs150754201,rs3215363 dbSNP Clinvar	1098233	490.73	CAGA	C	.	0/1	19	None	None	None	0.04413	0.04413					None None	None None None None	C7orf50\|0.003676254\|87.46%,GPR146\|0.00836765\|82.27%
	View	4k20002_01 gatk	7	rs3802141 dbSNP Clinvar	1131356	965.77	T	C	.	0/1	83	None	None	None	0.62780	0.62780	0.32616				None None	None None None None	C7orf50\|0.003676254\|87.46%,GPER1\|0.087593467\|53.71%
	View	4k20002_01 gatk	7	rs73263102 dbSNP Clinvar	1167077	412.77	G	A	.	0/1	29	None	None	None	0.09345	0.09345					None None	None None None None	C7orf50\|0.003676254\|87.46%
	View	4k20002_01 gatk	7	rs7781581 dbSNP Clinvar	1195264	980.77	T	C	.	0/1	54	None	None	None	0.14038	0.14040	0.13671				None None	None None None None	ZFAND2A\|0.006597884\|83.95%
	View	4k20002_01 gatk	7	rs75674288 dbSNP Clinvar	1195322	414.77	A	C	.	0/1	27	None	None	None	0.03694	0.03694					None None	None None None None	ZFAND2A\|0.006597884\|83.95%
	View	4k20002_01 gatk	7	rs79673567 dbSNP Clinvar	1195334	515.77	G	A	.	0/1	25	None	None	None	0.05911	0.05911					None None	None None None None	ZFAND2A\|0.006597884\|83.95%
	View	4k20002_01 gatk	7	rs79661915 dbSNP Clinvar	1197448	360.77	T	C	.	0/1	29	None	None	None	0.05092	0.05092					None None	None None None None	ZFAND2A\|0.006597884\|83.95%
	View	4k20002_01 gatk	7	rs12056053 dbSNP Clinvar	1197632	152.78	A	C	.	0/1	6	None	None	None	0.51977	0.51980					None None	None None None None	ZFAND2A\|0.006597884\|83.95%
MICALL2
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	4k20002_01 gatk	7	rs4236408 dbSNP Clinvar	1481919	2392.77	C	A	.	1/1	68	SYNONYMOUS_CODING	LOW	SILENT	0.99221	0.99220	0.01461				None None	None None None None	MICALL2\|0.002385779\|89.92%
	View	4k20002_01 gatk	7	rs61744261 dbSNP Clinvar	1482009	1579.77	G	C	.	0/1	91	SYNONYMOUS_CODING	LOW	SILENT	0.25459	0.25460	0.11979				None None	None None None None	MICALL2\|0.002385779\|89.92%
	View	4k20002_01 gatk	7	rs10435184 dbSNP Clinvar	1484572	2042.77	A	G	.	1/1	65	SYNONYMOUS_CODING	LOW	SILENT	0.99441	0.99440	0.00833				None None	None None None None	MICALL2\|0.002385779\|89.92%
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	4k20002_01 gatk	7	rs780550157 dbSNP Clinvar	1516129	845.73	G	GC...	.	1/1	13	None	None	None			0.31589				None None	None None None None	INTS1\|0.091590581\|52.91%
	View	4k20002_01 gatk	7	rs11977356 dbSNP Clinvar	1518336	1847.77	G	A	.	1/1	59	None	None	None	0.57688	0.57690	0.45752				None None	None None None None	INTS1\|0.091590581\|52.91%
	View	4k20002_01 gatk	7	rs56975547 dbSNP Clinvar	1519011	1227.77	G	A	.	1/1	32	None	None	None	0.56849	0.56850					None None	None None None None	INTS1\|0.091590581\|52.91%
	View	4k20002_01 gatk	7	rs9692164 dbSNP Clinvar	1519361	912.77	A	G	.	1/1	27	None	None	None	0.00080	0.61420	0.39055				None None	None None None None	INTS1\|0.091590581\|52.91%

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Summary

PRKAR1B

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