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+ Genes 398

Genes:
ABCC2, ABLIM1, ACBD5, ADAM12, ADAM8, ADAMTS14, ADARB2, AFAP1L2, AGAP5, AGAP6, AGAP7, AGAP8, AGAP9, AIFM2, AKR1C1, AKR1C2, AKR1C3, AKR1C4, AKR1CL1, AKR1E2, AL133481.1, AL162407.1, AL359195.1, AL450307.1, ANK3, ANKRD16, ANKRD2, ANKRD22, ANKRD26, ANKRD30A, ANTXRL, ANXA11, ARHGAP19, ARHGAP21, ARHGAP22, ARL5B, ARMC3, ARMC4, ARMS2, AS3MT, ASAH2, ASAH2C, ATE1, ATRNL1, BAG3, BEND7, BICC1, BLNK, BMPR1A, BMS1, BTBD16, C10ORF68, C10orf107, C10orf118, C10orf120, C10orf128, C10orf129, C10orf25, C10orf35, C10orf53, C10orf54, C10orf67, C10orf71, C10orf82, C10orf90, C10orf95, C1QL3, CACNB2, CACUL1, CALHM1, CALHM3, CALML3, CAMK1D, CAMK2G, CASP7, CC2D2B, CCAR1, CCDC3, CCDC6, CCNY, CCSER2, CDH23, CDHR1, CELF2, CEP55, CHAT, CHST15, CHST3, CHUK, CLRN3, CNNM1, CNNM2, COL13A1, COL17A1, COX15, CPEB3, CPXM2, CRTAC1, CSGALNACT2, CTBP2, CTNNA3, CUBN, CUEDC2, CWF19L1, CYP17A1, CYP26C1, CYP2C8, CYP2C9, CYP2E1, DCLRE1A, DCLRE1C, DDX50, DHTKD1, DIP2C, DKK1, DLG5, DMBT1, DNA2, DNMBP, DNTT, DOCK1, DPYSL4, DUSP13, DUSP5, DYDC1, EBLN1, ECHDC3, ECHS1, EGR2, EIF3A, EIF4EBP2, ENO4, EPC1, ERCC6, ERCC6-PGBD3, EXOC6, FAM160B1, FAM175B, FAM178A, FAM196A, FAM208B, FAM25A, FAM35A, FAM45A, FAS, FGFR2, FRA10AC1, FRG2B, FRMD4A, FZD8, GAD2, GBF1, GFRA1, GHITM, GLRX3, GPAM, GPR123, GPR158, GPR26, GPRIN2, GRID1, GSTO1, GSTO2, GTPBP4, HABP2, HECTD2, HERC4, HIF1AN, HK1, HKDC1, HOGA1, HPSE2, HUG1, IDI2, IFIT1, IFIT1B, IFIT2, IFIT3, IFIT5, IL15RA, IL2RA, INPP5A, INPP5F, IPMK, ITGA8, ITGB1, ITIH2, ITIH5, JAKMIP3, JMJD1C, KAT6B, KCNMA1, KIAA1217, KIAA1462, KIF20B, KIF5B, KNDC1, LBX1, LDB3, LGI1, LHPP, LIPA, LIPJ, LIPM, LIPN, LOXL4, LRIT1, LRIT2, LRRC18, LRRC27, LYZL1, LYZL2, MALRD1, MAP3K8, MARVELD1, MASTL, MAT1A, MBL2, MCM10, MCMBP, MEIG1, MKI67, MKX, MLLT10, MMP21, MMRN2, MMS19, MPP7, MRC1L1, MSRB2, MTG1, MTPAP, MYO3A, MYOF, MYPN, NCOA4, NEBL, NET1, NFKB2, NKX2-3, NKX6-2, NODAL, NPY4R, NRAP, NRG3, NRP1, NT5C2, NUDT5, OBFC1, OGDHL, OPN4, OPTN, OR13A1, OTUD1, PALD1, PANK1, PAOX, PARD3, PARG, PAX2, PBLD, PCDH15, PCGF6, PDCD11, PDCD4, PDE6C, PDLIM1, PDZD7, PFKP, PHYH, PHYHIPL, PIK3AP1, PITRM1, PITX3, PKD2L1, PLAU, PLCE1, PLEKHA1, PLEKHS1, PLXDC2, PNLIP, PNLIPRP1, PNLIPRP2, PNLIPRP3, PRAP1, PRDX3, PRF1, PRKCQ, PRLHR, PRPF18, PRR26, PSTK, PTCHD3, PTER, PTF1A, PTPLA, PTPRE, PWWP2B, R3HCC1L, RAB11FIP2, RBM20, RBP3, RET, RGR, RP11-295P9.3, RP11-451M19.3, RRP12, RSU1, RTKN2, RUFY2, SCD, SEC24C, SEC31B, SEC61A2, SEMA4G, SFMBT2, SFRP5, SFTPA1, SFTPA2, SFTPD, SFXN4, SGMS1, SGPL1, SH2D4B, SH3PXD2A, SKIDA1, SLC18A3, SLC29A3, SLC39A12, SLIT1, SLK, SMC3, SNCG, SORBS1, SORCS1, SORCS3, SPRN, SRGN, ST8SIA6, STAMBPL1, STK32C, STOX1, SUV39H2, SVIL, SYNPO2L, SYT15, TACC2, TACR2, TAF3, TAF5, TBATA, TCERG1L, TCTN3, TECTB, TET1, THNSL1, TIMM23, TM9SF3, TMEM180, TMEM254, TMEM72, TRDMT1, TRUB1, TTC40, TUBAL3, TUBB8, TUBGCP2, TYSND1, UCMA, UCN3, UNC5B, UPF2, UTF1, VCL, VSTM4, VWA2, WAPAL, WBP1L, WDFY4, WDR37, WDR96, ZCCHC24, ZDHHC6, ZFYVE27, ZMYND11, ZNF239, ZNF32, ZNF33A, ZNF33B, ZNF365, ZNF37A, ZNF438, ZNF485, ZNF487, ZNF488, ZNF503, ZSWIM8, ZWINT,

+ Genes associated with diseases 91

Genes at Omim

ABCC2, AKR1C2, AKR1C4, ANK3, ANKRD26, ANXA11, ARMC4, BAG3, BICC1, BLNK, BMPR1A, BMS1, CACNB2, CDH23, CDHR1, CEP55, CHAT, CHST3, CHUK, CNNM2, COL13A1, COL17A1, COX15, CTNNA3, CUBN, CWF19L1, CYP17A1, CYP26C1, CYP2C8, CYP2C9, DCLRE1C, DHTKD1, DNA2, ECHS1, EGR2, ERCC6, FAS, FGFR2, FRMD4A, HABP2, HK1, HOGA1, HPSE2, IL2RA, ITGA8, KAT6B, KCNMA1, LDB3, LGI1, LIPA, LIPN, MAP3K8, MAT1A, MBL2, MMP21, MTPAP, MYO3A, MYPN, NFKB2, NKX6-2, NODAL, NT5C2, OPTN, PAX2, PCDH15, PDE6C, PDZD7, PHYH, PITX3, PLAU, PLCE1, PNLIP, PRF1, PTF1A, RBM20, RBP3, RET, RGR, SFTPA2, SFXN4, SGPL1, SLC18A3, SLC29A3, SMC3, STOX1, TCTN3, TUBB8, VCL, ZFYVE27, ZMYND11, ZNF365,
ABCC2 Dubin-Johnson syndrome, 237500 (3)
AKR1C2 46XY sex reversal 8, 614279 (3)
AKR1C4 {46XY sex reversal 8, modifier of}, 614279 (3)
ANK3 ?Mental retardation, autosomal recessive, 37, 615493 (3)
ANKRD26 Thrombocytopenia 2, 188000 (3)
ANXA11 Amytrophic lateral sclerosis 23, 617839 (3)
ARMC4 Ciliary dyskinesia, primary, 23, 615451 (3)
BAG3 Cardiomyopathy, dilated, 1HH, 613881 (3)
Myopathy, myofibrillar, 6, 612954 (3)
BICC1 {Renal dysplasia, cystic, susceptibility to}, 601331 (3)
BLNK ?Agammaglobulinemia 4, 613502 (3)
BMPR1A Juvenile polyposis syndrome, infantile form, 174900 (3)
Polyposis syndrome, hereditary mixed, 2, 610069 (3)
Polyposis, juvenile intestinal, 174900 (3)
BMS1 ?Aplasia cutis congenita, nonsyndromic, 107600 (3)
CACNB2 Brugada syndrome 4, 611876 (3)
CDH23 Deafness, autosomal recessive 12, 601386 (3)
{Pituitary adenoma 5, multiple types}, 617540 (3)
Usher syndrome, type 1D, 601067 (3)
Usher syndrome, type 1D/F digenic, 601067 (3)
CDHR1 Cone-rod dystrophy 15, 613660 (3)
Retinitis pigmentosa 65, 613660 (3)
CEP55 Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, 236500 (3)
CHAT Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3)
CHST3 Spondyloepiphyseal dysplasia with congenital joint dislocations, 143095 (3)
CHUK Cocoon syndrome, 613630 (3)
CNNM2 Hypomagnesemia 6, renal, 613882 (3)
Hypomagnesemia, seizures, and mental retardation, 616418 (3)
COL13A1 Myasthenic syndrome, congenital, 19, 616720 (3)
COL17A1 Epidermolysis bullosa, junctional, localisata variant, 226650 (3)
Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)
Epithelial recurrent erosion dystrophy, 122400 (3)
COX15 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 (3)
Leigh syndrome due to cytochrome c oxidase deficiency, 256000 (3)
CTNNA3 Arrhythmogenic right ventricular dysplasia, familial, 13, 615616 (3)
CUBN Megaloblastic anemia-1, Finnish type, 261100 (3)
CWF19L1 Spinocerebellar ataxia, autosomal recessive 17, 616127 (3)
CYP17A1 17,20-lyase deficiency, isolated, 202110 (3)
17-alpha-hydroxylase/17,20-lyase deficiency, 202110 (3)
CYP26C1 Focal facial dermal dysplasia 4, 614974 (3)
CYP2C8 {Drug metabolism, altered, CYP2C8-related}, 618018 (3)
CYP2C9 Tolbutamide poor metabolizer (3)
Warfarin sensitivity, 122700 (3)
DCLRE1C Omenn syndrome, 603554 (3)
Severe combined immunodeficiency, Athabascan type, 602450 (3)
DHTKD1 2-aminoadipic 2-oxoadipic aciduria, 204750 (3)
?Charcot-Marie-Tooth disease, axonal, type 2Q, 615025 (3)
DNA2 Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6, 615156 (3)
?Seckel syndrome 8, 615807 (3)
ECHS1 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, 616277 (3)
EGR2 Charcot-Marie-Tooth disease, type 1D, 607678 (3)
Hypomyelinating neuropathy, congenital, 1, 605253 (3)
Dejerine-Sottas disease, 145900 (3)
ERCC6 Cerebrooculofacioskeletal syndrome 1, 214150 (3)
{Lung cancer, susceptibility to}, 211980 (3)
{Macular degeneration, age-related, susceptibility to, 5}, 613761 (3)
Cockayne syndrome, type B, 133540 (3)
De Sanctis-Cacchione syndrome, 278800 (3)
Premature ovarian failure 11, 616946 (3)
UV-sensitive syndrome 1, 600630 (3)
FAS Autoimmune lymphoproliferative syndrome, type IA, 601859 (3)
Squamous cell carcinoma, burn scar-related, somatic (3)
{Autoimmune lymphoproliferative syndrome}, 601859 (3)
FGFR2 Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis, 207410 (3)
Apert syndrome, 101200 (3)
Gastric cancer, somatic, 613659 (3)
Beare-Stevenson cutis gyrata syndrome, 123790 (3)
Bent bone dysplasia syndrome, 614592 (3)
Craniofacial-skeletal-dermatologic dysplasia, 101600 (3)
Craniosynostosis, nonspecific (3)
Crouzon syndrome, 123500 (3)
Jackson-Weiss syndrome, 123150 (3)
LADD syndrome, 149730 (3)
Pfeiffer syndrome, 101600 (3)
Saethre-Chotzen syndrome, 101400 (3)
Scaphocephaly and Axenfeld-Rieger anomaly (3)
Scaphocephaly, maxillary retrusion, and mental retardation, 609579 (3)
FRMD4A ?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819 (3)
HABP2 {Venous thromboembolism, susceptibility to}, 188050 (3)
{?Thyroid cancer, nonmedullary, 5}, 616535 (3)
HK1 Hemolytic anemia due to hexokinase deficiency, 235700 (3)
Neuropathy, hereditary motor and sensory, Russe type, 605285 (3)
Retinitis pigmentosa 79, 617460 (3)
HOGA1 Hyperoxaluria, primary, type III, 613616 (3)
HPSE2 Urofacial syndrome 1, 236730 (3)
IL2RA Immunodeficiency 41 with lymphoproliferation and autoimmunity, 606367 (3)
{Diabetes, mellitus, insulin-dependent, susceptibility to, 10}, 601942 (3)
ITGA8 Renal hypodysplasia/aplasia 1, 191830 (3)
KAT6B Genitopatellar syndrome, 606170 (3)
SBBYSS syndrome, 603736 (3)
KCNMA1 Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446 (3)
?Cerebellar atrophy, developmental delay, and seizures, 617643 (3)
LDB3 Cardiomyopathy, dilated, 1C, with or without LVNC, 601493 (3)
Cardiomyopathy, hypertrophic, 24, 601493 (3)
Left ventricular noncompaction 3, 601493 (3)
Myopathy, myofibrillar, 4, 609452 (3)
LGI1 Epilepsy, familial temporal lobe, 1, 600512 (3)
LIPA Cholesteryl ester storage disease, 278000 (3)
Wolman disease, 278000 (3)
LIPN Ichthyosis, congenital, autosomal recessive 8, 613943 (3)
MAP3K8 Lung cancer, somatic, 211980 (3)
MAT1A Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850 (3)
Methionine adenosyltransferase deficiency, autosomal recessive, 250850 (3)
MBL2 {Chronic infections, due to MBL deficiency}, 614372 (3)
MMP21 Heterotaxy, visceral, 7, autosomal, 616749 (3)
MTPAP ?Spastic ataxia 4, autosomal recessive, 613672 (3)
MYO3A Deafness, autosomal recessive 30, 607101 (3)
MYPN Cardiomyopathy, dilated, 1KK, 615248 (3)
Cardiomyopathy, familial restrictive, 4, 615248 (3)
Cardiomyopathy, hypertrophic, 22, 615248 (3)
Nemaline myopathy 11, autosomal recessive, 617336 (3)
NFKB2 Immunodeficiency, common variable, 10, 615577 (3)
NKX6-2 Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 (3)
NODAL Heterotaxy, visceral, 5, 270100 (3)
NT5C2 Spastic paraplegia 45, autosomal recessive, 613162 (3)
OPTN {Glaucoma, normal tension, susceptibility to}, 606657 (3)
Amyotrophic lateral sclerosis 12, 613435 (3)
Glaucoma 1, open angle, E, 137760 (3)
PAX2 Glomerulosclerosis, focal segmental, 7, 616002 (3)
Papillorenal syndrome, 120330 (3)
PCDH15 Deafness, autosomal recessive 23, 609533 (3)
Usher syndrome, type 1D/F digenic, 601067 (3)
Usher syndrome, type 1F, 602083 (3)
PDE6C Cone dystrophy 4, 613093 (3)
PDZD7 Deafness, autosomal recessive 57, 618003 (3)
{Retinal disease in Usher syndrome type IIA, modifier of}, 276901 (3)
Usher syndrome, type IIC, GPR98/PDZD7 digenic, 605472 (3)
PHYH Refsum disease, 266500 (3)
PITX3 Anterior segment dysgenesis 1, multiple subtypes, 107250 (3)
Cataract 11, multiple types, 610623 (3)
Cataract 11, syndromic, autosomal recessive, 610623 (3)
PLAU Quebec platelet disorder, 601709 (3)
{Alzheimer disease, late-onset, susceptibility to}, 104300 (3)
PLCE1 Nephrotic syndrome, type 3, 610725 (3)
PNLIP ?Pancreatic lipase deficiency, 614338 (3)
PRF1 Aplastic anemia, 609135 (3)
Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3)
Lymphoma, non-Hodgkin, 605027 (3)
PTF1A Pancreatic agenesis 2, 615935 (3)
Pancreatic and cerebellar agenesis, 609069 (3)
RBM20 Cardiomyopathy, dilated, 1DD, 613172 (3)
RBP3 ?Retinitis pigmentosa 66, 615233 (3)
RET {Hirschsprung disease, protection against}, 142623 (3)
{Hirschsprung disease, susceptibility to, 1}, 142623 (3)
Central hypoventilation syndrome, congenital, 209880 (3)
Medullary thyroid carcinoma, 155240 (3)
Multiple endocrine neoplasia IIA, 171400 (3)
Multiple endocrine neoplasia IIB, 162300 (3)
Pheochromocytoma, 171300 (3)
RGR Retinitis pigmentosa 44, 613769 (3)
SFTPA2 Pulmonary fibrosis, idiopathic, 178500 (3)
SFXN4 Combined oxidative phosphorylation deficiency 18, 615578 (3)
SGPL1 Nephrotic syndrome, type 14, 617575 (3)
SLC18A3 Myasthenic syndrome, congenital, 21, presynaptic, 617239 (3)
SLC29A3 Histiocytosis-lymphadenopathy plus syndrome, 602782 (3)
SMC3 Cornelia de Lange syndrome 3, 610759 (3)
STOX1 Preeclampsia/eclampsia 4, 609404 (3)
TCTN3 Joubert syndrome 18, 614815 (3)
Orofaciodigital syndrome IV, 258860 (3)
TUBB8 Oocyte maturation defect 2, 616780 (3)
VCL Cardiomyopathy, dilated, 1W, 611407 (3)
Cardiomyopathy, hypertrophic, 15, 613255 (3)
ZFYVE27 Spastic paraplegia 33, autosomal dominant, 610244 (3)
ZMYND11 Mental retardation, autosomal dominant 30, 616083 (3)
ZNF365 {Nephrolithiasis, uric acid, susceptibility to}, 605990 (3)

Genes at Clinical Genomics Database

ABCC2, AKR1C2, ANKRD26, ARMC4, BAG3, BICC1, BLNK, BMPR1A, BMS1, CACNB2, CDH23, CDHR1, CHAT, CHST3, CHUK, CNNM2, COL13A1, COL17A1, COX15, CTNNA3, CUBN, CWF19L1, CYP17A1, CYP26C1, CYP2C8, CYP2C9, DCLRE1C, DHTKD1, DNA2, ECHS1, EGR2, ERCC6, FAS, FGFR2, FRMD4A, HABP2, HK1, HOGA1, HPSE2, IL2RA, IPMK, ITGA8, KAT6B, KCNMA1, LDB3, LGI1, LIPA, LIPN, MASTL, MAT1A, MBL2, MMP21, MTPAP, MYO3A, MYPN, NFKB2, NODAL, NT5C2, OPTN, PAX2, PCDH15, PDE6C, PDZD7, PHYH, PITX3, PLAU, PLCE1, PRF1, PTF1A, RBM20, RBP3, RET, RGR, SFTPA2, SFXN4, SLC29A3, SMC3, TCTN3, TUBB8, VCL, ZFYVE27, ZMYND11,
ABCC2 Dubin-Johnson syndrome
AKR1C2 46,XY sex reversal 8
ANKRD26 Thrombocytopenia 2
ARMC4 Ciliary dyskinesia, primary, 23
BAG3 Cardiomyopathy, dilated, 1HH
Myopathy, myofibrillar 6
BICC1 Renal dysplasia, cystic, susceptibility to
BLNK Agammaglobulinemia 4
BMPR1A Polyposis syndrome, hereditary mixed, 2
Polyposis, juvenile intestinal
BMS1 Aplasia cutis congenita, nonsyndromic
CACNB2 Brugada syndrome 4
CDH23 Deafness, autosomal recessive 12
Usher syndrome, type 1D
Usher syndrome, type 1D /F digenic
CDHR1 Cone-rod dystrophy 15
Retinitis pigmentosa 65
CHAT Myasthenic syndrome, congenital 6, presynaptic
CHST3 Spondyloepiphyseal dysplasia with congenital joint dislocations
CHUK Cocoon syndrome
CNNM2 Hypomagnesemia 6 ,renal
COL13A1 Myasthenic syndrome, congenital, 19
COL17A1 Epithelial recurrent erosion dystrophy (ERED)
Epidermolysis bullosa, junctional, non-Herlitz type
COX15 Leigh syndrome
Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2
CTNNA3 Arrhythmogenic right ventricular dysplasia, familial, 13
CUBN Megaloblastic anemia-1, Finnish type
CWF19L1 Spinocerebellar ataxia, autosomal recessive 17
CYP17A1 Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency
CYP26C1 Focal facial dermal dysplasia 4
CYP2C8 Rhabdomyolysis, cerivastatin-induced
CYP2C9 Drug metabolism, CYP2C9-related
DCLRE1C Omenn syndrome
Severe combined immunodeficiency with sensitivity to ionizing radiation
DHTKD1 Charcot-Marie-Tooth disease, type 2Q
2-aminoadipic and 2-oxoadipic aciduria
DNA2 Progressive external ophthalmoplegia with mitochondrial deletions, autosomal dominant, 6
Seckel syndrome 8
ECHS1 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
EGR2 Charcot-Marie-Tooth disease, demyelinating, type 1D
Neuropathy, congenital hypomyelinating, 1
Dejerine-Sottas disease
ERCC6 Xeroderma Pigmentosum-Cockayne Syndrome
De Sanctis-Cacchione syndrome
Premature ovarian failure 11 (AD)
FAS Autoimmune lymphoproliferative syndrome, type IA
FGFR2 Lacrimoauriculodentodigital syndrome
Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis
Sraniofacial-skeletal-dermatological dysplasia
Crouzon syndrome
Jackson-Weiss syndrome
Pfeiffer syndrome
Apert syndrome
Beare-Stevenson cutis gyrata syndrome
FRMD4A Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia (Fine-Flusser syndrome)
HABP2 Thyroid cancer, nonmedullary 5
HK1 Hemolytic anemia, nonspherocytic, due to hexokinase deficiency
HOGA1 Hyperoxaluria, primary, type III
HPSE2 Ochoa syndrome
Urofacial syndrome 1
IL2RA Interleukin 2 receptor, alpha, deficiency of
IPMK Small intestinal carcinoid, hereditary
ITGA8 Renal agenesis, bilateral
KAT6B Ohdo syndrome, SBBYS variant
Genitopatellar syndrome
KCNMA1 Generalized epilepsy and paroxysmal dyskinesia
LDB3 Cardiomyopathy, dilated 1C, with or without ventricular noncompaction
Myopathy, myofibrillar 4
LGI1 Epilepsy, familial temporal lobe, 1
LIPA Cholesterol ester storage disease
Wolman disease
LIPN Ichthyosis, congenital, autosomal recessive 8
MASTL Thrombocytopenia 2
MAT1A Methionine adenosyltransferase deficiency
MBL2 Mannose-binding protein deficiency
MMP21 Heterotaxy, visceral, 7
MTPAP Spastic ataxia 4, autosomal recessive
MYO3A Deafness, autosomal recessive 30
MYPN Cardiomyopathy, dilated, 1KK
Cardiomyopathy, familial hypertrophic, 22
Cardiomyopathy, familial restrictive, 4
NFKB2 Immunodeficiency, common variable, 10
NODAL Heterotaxy, visceral, 5
NT5C2 Spastic paraplegia 45
OPTN Glaucoma, normal tension, susceptibility to
Glaucoma 1, open angle, E
PAX2 Isolated renal hypoplasia
Papillorenal syndrome
PCDH15 Deafness, autosomal recessive 23
Usher syndrome, type 1F
Usher syndrome, type 1D/F, digenic
PDE6C Cone dystrophy 4
PDZD7 Usher syndrome, type IIC
PHYH Refsum disease
PITX3 Cataract, posterior polar, 4
Cataract, congenital
Cataract, posterior polar 4, syndromic
Anterior segment mesenchymal dysgenesis
PLAU Quebec platelet disorder
PLCE1 Nephrotic syndrome, type 3
PRF1 Hemophagocytic lymphohistiocytosis, familial, 2
Lymphoma, non-Hodgkin
Aplastic anemia, adult-onset
PTF1A Pancreatic and cerebellar agenesis
Pancreatic agenesis 2
RBM20 Cardiomyopathy, dilated, 1DD
RBP3 Retinitis pigmentosa 66
RET Central hypoventilation syndrome, congenital
Multiple endocrine neoplasia, type IIA
Multiple endocrine neoplasia IIB
Medullary thyroid carcinoma, familial
Pheochromocytoma
Hirschsprung disease, susceptibility to 1
RGR Retinitis pigmentosa 44
SFTPA2 Pulmonary fibrosis, idiopathic
SFXN4 Combined oxidative phosphorylation deficiency 18
SLC29A3 Histiocytosis-lymphadenopathy plus syndrome
SMC3 Cornelia de Lange syndrome 3
TCTN3 Joubert syndrome 18
Orofaciodigital syndrome IV (Mohr-Majewski syndrome)
TUBB8 Oocyte maturation defect 2
VCL Cardiomyopathy, familial hypertrophic 15
Cardiomyopathy, dilated, 1W
ZFYVE27 Spastic paraplegia 33, autosomal dominant
ZMYND11 Mental retardation, autosomal domianant, 30

Genes at HGMD

Summary

Number of Variants: 24989
Number of Genes: 398

Export to: CSV
  • Page 1 of 250

ABCC2
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 final-ma145 10 rs17216317
dbSNP Clinvar 		101604107 1199.77 C T PASS 0/1 80 NON_SYNONYMOUS_CODING MODERATE None 0.01098 0.01098 0.01138 0.02 0.28 None None None None None None ABCC2|0.186653982|38.2%
View final-ma145 10 rs3740066
dbSNP Clinvar 		101604207 1081.77 C T PASS 0/1 91 SYNONYMOUS_CODING LOW None 0.28814 0.28810 0.33354 None None None None None None ABCC2|0.186653982|38.2%
View final-ma145 10 rs927344
dbSNP Clinvar 		101544447 2740.77 A T PASS 1/1 86 NON_SYNONYMOUS_CODING MODERATE None 0.99461 0.99460 0.00654 1.00 0.00 None None None None None None ABCC2|0.186653982|38.2%

ABLIM1
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 final-ma145 10 rs2247528
dbSNP Clinvar 		116307504 1165.77 A G PASS 0/1 89 SYNONYMOUS_CODING LOW None 0.78315 0.78310 0.20821 None None None None None None ABLIM1|0.44358146|18.51%
View final-ma145 10 rs985273
dbSNP Clinvar 		116335246 2057.77 G A PASS 0/1 174 SYNONYMOUS_CODING LOW None 0.30451 0.30450 0.26695 None None None None None None ABLIM1|0.44358146|18.51%

ACBD5
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 final-ma145 10 rs10764690
dbSNP Clinvar 		27508758 6631.77 T C PASS 1/1 218 SYNONYMOUS_CODING LOW None 0.31789 0.31790 0.39382 None None None None None None ACBD5|0.116795914|47.98%

ADAM12
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 final-ma145 10 rs2279091
dbSNP Clinvar 		127753388 571.77 C T PASS 0/1 58 SYNONYMOUS_CODING LOW None 0.07548 0.07548 0.09920 None None None None None None ADAM12|0.075293986|56.23%
View final-ma145 10 rs1278279
dbSNP Clinvar 		127753478 1644.77 G A PASS 0/1 131 SYNONYMOUS_CODING LOW None 0.30272 0.30270 0.25427 None None None None None None ADAM12|0.075293986|56.23%
View final-ma145 10 rs1044122
dbSNP Clinvar 		127724778 451.77 A G PASS 0/1 21 SYNONYMOUS_CODING LOW None 0.26697 0.26700 0.24904 None None None None None None ADAM12|0.075293986|56.23%

ADAM8
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 final-ma145 10 rs1131719
dbSNP Clinvar 		135085426 7086.77 A G PASS 1/1 219 SYNONYMOUS_CODING LOW None 0.91893 0.91890 0.08042 None None None None None None ADAM8|0.004556093|86.35%
View final-ma145 10 rs2275725
dbSNP Clinvar 		135089035 1917.77 A G PASS 1/1 67 NON_SYNONYMOUS_CODING MODERATE None 0.90316 0.90320 0.09083 1.00 0.00 None None None None None None ADAM8|0.004556093|86.35%
View final-ma145 10 rs1131718
dbSNP Clinvar 		135085754 4887.77 G A PASS 1/1 164 SYNONYMOUS_CODING LOW None 0.88359 0.88360 0.12098 None None None None None None ADAM8|0.004556093|86.35%
View final-ma145 10 rs1131720
dbSNP Clinvar 		135085321 4673.77 C T PASS 1/1 146 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.84665 0.84660 0.15147 None None None None None None ADAM8|0.004556093|86.35%
View final-ma145 10 rs3008326
dbSNP Clinvar 		135087521 4024.77 G A PASS 1/1 138 SYNONYMOUS_CODING LOW None 0.72424 0.72420 0.28998 None None None None None None ADAM8|0.004556093|86.35%
View final-ma145 10 rs2275720
dbSNP Clinvar 		135082346 8694.77 A G PASS 1/1 285 NON_SYNONYMOUS_CODING MODERATE None 0.82428 0.82430 0.19900 0.68 0.01 None None None None None None ADAM8|0.004556093|86.35%

ADAMTS14
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 final-ma145 10 rs10823607
dbSNP Clinvar 		72500763 8985.77 T C PASS 1/1 294 NON_SYNONYMOUS_CODING MODERATE None 0.79992 0.79990 0.19168 0.32 0.00 None None None None None None ADAMTS14|0.04385867|64.56%
View final-ma145 10 rs10823615
dbSNP Clinvar 		72520330 2014.77 A G PASS 0/1 167 SYNONYMOUS_CODING LOW None 0.00140 0.38600 0.36422 None None None None None None ADAMTS14|0.04385867|64.56%
View final-ma145 10 rs10999500
dbSNP Clinvar 		72500863 7069.77 C G PASS 1/1 225 SYNONYMOUS_CODING LOW None 0.66713 0.66710 0.38190 None None None None None None ADAMTS14|0.04385867|64.56%
View final-ma145 10 rs2587475
dbSNP Clinvar 		72513682 2960.77 C T PASS 1/1 97 SYNONYMOUS_CODING LOW None 0.52516 0.52520 0.45384 None None None None None None ADAMTS14|0.04385867|64.56%
View final-ma145 10 rs6480463
dbSNP Clinvar 		72517837 978.77 C T PASS 0/1 71 SYNONYMOUS_CODING LOW None 0.51697 0.51700 0.42903 None None None None None None ADAMTS14|0.04385867|64.56%

ADARB2
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 final-ma145 10 rs2271275
dbSNP Clinvar 		1230968 279.77 C T PASS 0/1 30 NON_SYNONYMOUS_CODING MODERATE None 0.54313 0.54310 0.43947 0.25 0.02 None None None None None None ADARB2|0.14627916|43.56%

AFAP1L2
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 final-ma145 10 rs73365341
dbSNP Clinvar 		116064528 694.77 G A PASS 0/1 65 NON_SYNONYMOUS_CODING MODERATE None 0.10603 0.10600 0.12527 0.14 1.00 None None None None None None AFAP1L2|0.092781823|52.66%
View final-ma145 10 rs621375
dbSNP Clinvar 		116073801 3473.77 T C PASS 0/1 285 SYNONYMOUS_CODING LOW None 0.35443 0.35440 0.34307 None None None None None None AFAP1L2|0.092781823|52.66%
View final-ma145 10 rs2286396
dbSNP Clinvar 		116060387 10087.77 T C PASS 1/1 320 SYNONYMOUS_CODING LOW None 0.64157 0.64160 0.31855 None None None None None None AFAP1L2|0.092781823|52.66%

AGAP5
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 final-ma145 10 . 75442543 106.77 C T MappingQuality;VQSRTrancheSNP99.90to100.00 0/1 18 NON_SYNONYMOUS_CODING MODERATE None 0.19 0.01 None None None None None None AGAP5|0.009639275|81.14%

AGAP6
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 final-ma145 10 rs61848260
dbSNP Clinvar 		51748684 436.77 G A VQSRTrancheSNP99.00to99.90 0/1 36 NON_SYNONYMOUS_CODING MODERATE None 0.50020 0.50020 0.17 0.00 None None None None None None AGAP6|0.003119632|88.45%

AGAP7
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 final-ma145 10 rs61850064
dbSNP Clinvar 		51465552 39.74 A T MappingQuality;VQSRTrancheSNP99.00to99.90 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None AGAP7P|0.001668593|92.02%
View final-ma145 10 rs201285097
dbSNP Clinvar 		51465478 301.77 T C VQSRTrancheSNP99.00to99.90 0/1 15 SYNONYMOUS_CODING LOW None 0.00020 0.00020 0.00154 None None None None None None AGAP7P|0.001668593|92.02%

AGAP8
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 final-ma145 10 rs80103077
dbSNP Clinvar 		51225623 171.84 A G MappingQuality;VQSRTrancheSNP99.00to99.90 1/1 6 SYNONYMOUS_CODING LOW None 0.82029 0.82030 None None None None None None None

AGAP9
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 final-ma145 10 rs200283865
dbSNP Clinvar 		48235892 418.77 C T MappingQuality;VQSRTrancheSNP99.90to100.00 0/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.02 0.00 None None None None None None AGAP9|0.003287592|88.1%

AIFM2
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 final-ma145 10 rs2394656
dbSNP Clinvar 		71876382 1046.77 C T PASS 1/1 29 SYNONYMOUS_CODING LOW None 0.60064 0.60060 0.32316 None None None None None None AIFM2|0.142363482|44.1%
View final-ma145 10 rs10999147
dbSNP Clinvar 		71880858 1208.77 A G PASS 0/1 131 NON_SYNONYMOUS_CODING MODERATE None 0.09285 0.09285 0.06659 0.00 0.03 None None None None None None AIFM2|0.142363482|44.1%

AKR1C1
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 final-ma145 10 rs1138566
dbSNP Clinvar 		5005651 3288.77 T C VQSRTrancheSNP99.00to99.90 0/1 269 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.05431 0.05431 0.06482 None None None None None None AKR1C1|0.0017482|91.68%
View final-ma145 10 rs1138600
dbSNP Clinvar 		5010572 389.77 A G MappingQuality;VQSRTrancheSNP99.00to99.90 1/1 13 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.99720 0.99720 None None None None None None AKR1C1|0.0017482|91.68%

AKR1C2
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 final-ma145 10 rs3207909
dbSNP Clinvar 		5041398 61.77 T C MappingQuality;QualityByDepth;VQSRTrancheSNP99.90to100.00 0/1 39 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None None None None None None None AKR1C2|0.002182475|90.47%

AKR1C3
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 final-ma145 10 rs4881396
dbSNP Clinvar 		5120157 326.77 G T PASS 0/1 65 None None None 0.87201 0.87200 0.71 0.00 None None None None None None AKR1C3|0.002438134|89.81%
View final-ma145 10 rs12529
dbSNP Clinvar 		5136651 1075.77 C G PASS 0/1 83 NON_SYNONYMOUS_CODING MODERATE None 0.57967 0.57970 0.43002 0.40 0.00 None None None None None None AKR1C3|0.002438134|89.81%
View final-ma145 10 rs12387
dbSNP Clinvar 		5139685 2321.77 G A PASS 0/1 249 SYNONYMOUS_CODING LOW None 0.84824 0.84820 0.15693 None None None None None None AKR1C3|0.002438134|89.81%
View final-ma145 10 rs116351688
dbSNP Clinvar 		5144345 711.77 C T PASS 0/1 65 NON_SYNONYMOUS_CODING MODERATE None 0.00100 0.00100 0.00038 0.01 0.30 None None None None None None AKR1C3|0.002438134|89.81%

AKR1C4
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 final-ma145 10 rs17306779
dbSNP Clinvar 		5242164 1875.77 A G PASS 0/1 143 SYNONYMOUS_CODING LOW None 0.16514 0.16510 0.18853 None None None None None None AKR1C4|0.002829069|88.97%
View final-ma145 10 rs3829125
dbSNP Clinvar 		5247784 3137.77 C G PASS 0/1 207 NON_SYNONYMOUS_CODING MODERATE None 0.10284 0.10280 0.11433 1.00 0.00 None None None None None None AKR1C4|0.002829069|88.97%
View final-ma145 10 rs4880718
dbSNP Clinvar 		5255025 2175.77 A G PASS 1/1 66 NON_SYNONYMOUS_CODING MODERATE None 0.99980 0.99980 1.00 0.00 None None None None None None AKR1C4|0.002829069|88.97%
View final-ma145 10 rs17134592
dbSNP Clinvar 		5260682 1611.77 C G PASS 0/1 112 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.10244 0.10240 0.11426 0.25 0.00 None None None None None None AKR1C4|0.002829069|88.97%

AKR1CL1
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 final-ma145 10 rs2801889
dbSNP Clinvar 		5202104 2090.77 C T VQSRTrancheSNP99.00to99.90 1/1 60 None None None 0.97764 0.97760 1.00 0.00 None None None None None None None
View final-ma145 10 rs1781931
dbSNP Clinvar 		5197881 419.77 A G PASS 0/1 23 None None None 0.20228 0.20230 None None None None None None None
View final-ma145 10 rs1781935
dbSNP Clinvar 		5199934 2052.77 G C PASS 0/1 201 None None None 0.60204 0.60200 0.01 0.84 None None None None None None None

AKR1E2
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 final-ma145 10 rs12240276
dbSNP Clinvar 		4889403 3877.77 C T PASS 0/1 365 STOP_GAINED HIGH None 0.07847 0.07847 0.10964 None None None None None None AKR1E2|0.003819928|87.28%
View final-ma145 10 . 4873034 971.77 G A PASS 0/1 73 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None None None None None None None AKR1E2|0.003819928|87.28%

AL133481.1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View final-ma145 10 rs141857846
dbSNP Clinvar 		81270316 934.77 C T MappingQuality;VQSRTrancheSNP99.00to99.90 0/1 156 NON_SYNONYMOUS_CODING MODERATE None 0.01617 0.01617 0.00 None None None None None None None
View final-ma145 10 rs3867204
dbSNP Clinvar 		81270319 565.77 T A MappingQuality;VQSRTrancheSNP99.00to99.90 0/1 152 NON_SYNONYMOUS_START LOW None 0.00 None None None None None None None

AL162407.1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View final-ma145 10 rs7895609
dbSNP Clinvar 		115675025 1487.77 G A PASS 0/1 122 SYNONYMOUS_CODING LOW None 0.74621 0.74620 None None None None None None NHLRC2|0.150423517|42.94%

AL359195.1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View final-ma145 10 rs2573326
dbSNP Clinvar 		82013146 2205.77 T C VQSRTrancheSNP99.00to99.90 0/1 130 NON_SYNONYMOUS_CODING MODERATE None 0.59844 0.59840 1.00 0.00 None None None None None None None
View final-ma145 10 rs12773664
dbSNP Clinvar 		82012954 5097.77 A G PASS 0/1 251 NON_SYNONYMOUS_CODING MODERATE None 0.40895 0.40890 0.80 0.07 None None None None None None None
View final-ma145 10 rs12411782
dbSNP Clinvar 		82012967 4366.77 G T PASS 0/1 216 NON_SYNONYMOUS_CODING MODERATE None 0.27097 0.27100 0.01 0.52 None None None None None None None
View final-ma145 10 rs1298908
dbSNP Clinvar 		82013134 1985.77 C T PASS 0/1 132 NON_SYNONYMOUS_CODING MODERATE None 0.58926 0.58930 0.24 0.00 None None None None None None None
View final-ma145 10 rs12219032
dbSNP Clinvar 		82012599 2236.77 T C PASS 0/1 150 SYNONYMOUS_CODING LOW None 0.27576 0.27580 None None None None None None None
View final-ma145 10 rs12217395
dbSNP Clinvar 		82012748 2610.77 G A PASS 0/1 219 NON_SYNONYMOUS_CODING MODERATE None 0.27556 0.27560 0.18 0.00 None None None None None None None
View final-ma145 10 rs12411806
dbSNP Clinvar 		82013119 1726.77 G A PASS 0/1 124 NON_SYNONYMOUS_CODING MODERATE None 0.27296 0.27300 0.76 0.93 None None None None None None None

AL450307.1
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View final-ma145 10 rs4897740
dbSNP Clinvar 		133607947 421.77 T G PASS 1/1 10 SYNONYMOUS_CODING LOW None 0.58447 0.58450 None None None None None None None
View final-ma145 10 rs4897741
dbSNP Clinvar 		133608210 2362.77 A G PASS 1/1 78 NON_SYNONYMOUS_CODING MODERATE None 0.58526 0.58530 0.00 None None None None None None None
View final-ma145 10 rs4897781
dbSNP Clinvar 		133607904 52.74 G A PASS 1/1 2 NON_SYNONYMOUS_CODING MODERATE None 0.58367 0.58370 0.00 None None None None None None None
View final-ma145 10 rs184471477
dbSNP Clinvar 		133607952 234.77 G T PASS 0/1 11 NON_SYNONYMOUS_CODING MODERATE None 0.00978 0.00978 0.00 None None None None None None None
View final-ma145 10 rs4897742
dbSNP Clinvar 		133608291 3328.77 T G PASS 1/1 74 NON_SYNONYMOUS_CODING MODERATE None 0.50559 0.50560 0.01 None None None None None None None
View final-ma145 10 rs4897782
dbSNP Clinvar 		133607937 376.78 G A PASS 1/1 9 NON_SYNONYMOUS_CODING MODERATE None 0.54493 0.54490 0.00 None None None None None None None
View final-ma145 10 rs4897783
dbSNP Clinvar 		133608237 2433.77 G A PASS 1/1 78 NON_SYNONYMOUS_CODING MODERATE None 0.50619 0.50620 0.83 None None None None None None None
View final-ma145 10 rs4897743
dbSNP Clinvar 		133608292 3328.77 T G PASS 1/1 75 NON_SYNONYMOUS_CODING MODERATE None 0.50539 0.50540 0.00 None None None None None None None

ANK3
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 final-ma145 10 rs2297979
dbSNP Clinvar 		61965625 2117.77 A G PASS 0/1 177 SYNONYMOUS_CODING LOW None 0.15156 0.15160 0.18176 None None None None None None ANK3|0.919303788|3%
View final-ma145 10 rs11599164
dbSNP Clinvar 		61831984 2569.77 G T PASS 0/1 179 NON_SYNONYMOUS_CODING MODERATE None 0.03135 0.03135 0.07822 0.01 None None None None None None ANK3|0.919303788|3%
View final-ma145 10 rs17208576
dbSNP Clinvar 		61834573 2482.77 G A PASS 0/1 162 SYNONYMOUS_CODING LOW None 0.03155 0.03155 0.07866 None None None None None None ANK3|0.919303788|3%
View final-ma145 10 rs28932171
dbSNP Clinvar 		61831290 2673.77 T C PASS 0/1 216 NON_SYNONYMOUS_CODING MODERATE None 0.03155 0.03155 0.07896 0.01 None None None None None None ANK3|0.919303788|3%
View final-ma145 10 rs71495633
dbSNP Clinvar 		62029934 2143.77 G C PASS 0/1 150 SYNONYMOUS_CODING LOW None 0.01558 0.01558 0.11210 None None None None None None ANK3|0.919303788|3%

ANKRD16
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 final-ma145 10 rs1052420
dbSNP Clinvar 		5920121 2164.77 T C PASS 0/1 225 NON_SYNONYMOUS_CODING MODERATE None 0.80391 0.80390 0.17846 0.33 0.01 None None None None None None ANKRD16|0.021840736|73.25%
View final-ma145 10 rs61729846
dbSNP Clinvar 		5920244 984.77 T C PASS 0/1 58 NON_SYNONYMOUS_CODING MODERATE None 0.06190 0.06190 0.06843 0.00 0.99 None None None None None None ANKRD16|0.021840736|73.25%
View final-ma145 10 rs631947
dbSNP Clinvar 		5925971 7958.77 C A PASS 1/1 252 SYNONYMOUS_CODING LOW None 0.92252 0.92250 0.08435 None None None None None None ANKRD16|0.021840736|73.25%

ANKRD2
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 final-ma145 10 rs7094973
dbSNP Clinvar 		99337572 904.77 G A PASS 0/1 54 NON_SYNONYMOUS_CODING MODERATE None 0.45407 0.45410 0.43891 0.59 0.00 None None None None None None ANKRD2|0.135833884|44.99%
View final-ma145 10 rs12221474
dbSNP Clinvar 		99332488 207.77 A C PASS 0/1 23 SYNONYMOUS_CODING LOW None 0.35344 0.35340 0.24835 None None None None None None ANKRD2|0.135833884|44.99%

ANKRD22
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 final-ma145 10 rs7893917
dbSNP Clinvar 		90585819 1415.77 G A PASS 0/1 108 SYNONYMOUS_CODING LOW None 0.34125 0.34130 0.32816 None None None None None None ANKRD22|0.085075807|54.17%

ANKRD26
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 final-ma145 10 rs7897309
dbSNP Clinvar 		27389197 668.77 T C PASS 1/1 24 NON_SYNONYMOUS_CODING MODERATE None 0.94469 0.94470 0.10655 1.00 0.00 None None None None None None ANKRD26|0.003195391|88.32%

ANKRD30A
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 final-ma145 10 rs200315308
dbSNP Clinvar 		37433975 40.77 T G VQSRTrancheSNP99.00to99.90 0/1 7 NON_SYNONYMOUS_CODING MODERATE None 0.22 0.00 None None None None None None ANKRD30A|0.001436042|93.14%
View final-ma145 10 rs200164455
dbSNP Clinvar 		37433983 37.77 G T VQSRTrancheSNP99.00to99.90 0/1 7 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.19 0.05 None None None None None None ANKRD30A|0.001436042|93.14%
View final-ma145 10 rs1148259
dbSNP Clinvar 		37508450 846.77 A C PASS 0/1 79 SYNONYMOUS_CODING LOW None 0.53355 0.53350 0.40857 None None None None None None ANKRD30A|0.001436042|93.14%
View final-ma145 10 rs1209750
dbSNP Clinvar 		37488689 615.77 G C PASS 0/1 53 NON_SYNONYMOUS_CODING MODERATE None 0.48223 0.48220 0.40331 0.27 0.00 None None None None None None ANKRD30A|0.001436042|93.14%
View final-ma145 10 rs200974283
dbSNP Clinvar 		37433982 37.77 C G VQSRTrancheSNP99.00to99.90 0/1 6 NON_SYNONYMOUS_CODING+SPLICE_SITE_REGION MODERATE None 0.00020 0.25 0.05 None None None None None None ANKRD30A|0.001436042|93.14%

ANTXRL
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View final-ma145 10 rs10906952
dbSNP Clinvar 		47701275 873.77 G A PASS 0/1 74 SYNONYMOUS_CODING LOW None 0.27596 0.27600 None None None None None None ANTXRL|0.000107209|99.93%
View final-ma145 10 rs7091749
dbSNP Clinvar 		47701302 1684.77 G C PASS 1/1 56 SYNONYMOUS_CODING LOW None 0.01078 0.80850 None None None None None None ANTXRL|0.000107209|99.93%
View final-ma145 10 rs2999446
dbSNP Clinvar 		47682811 1085.77 G A PASS 0/1 100 SYNONYMOUS_CODING LOW None 0.14457 0.14460 None None None None None None ANTXRL|0.000107209|99.93%

ANXA11
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View final-ma145 10 rs1049550
dbSNP Clinvar 		81926702 1478.77 G A PASS 0/1 149 NON_SYNONYMOUS_CODING MODERATE None 0.39217 0.39220 0.33923 0.02 1.00 None None None None None None ANXA11|0.080075284|55.15%

ARHGAP19
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View final-ma145 10 rs2253301
dbSNP Clinvar 		99019177 7358.77 A G PASS 1/1 254 SYNONYMOUS_CODING LOW None 0.84445 0.84440 0.10049 None None None None None None ARHGAP19-SLIT1|0.508518585|15.45%,ARHGAP19|0.371362941|22.63%

ARHGAP21
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 final-ma145 10 rs1127893
dbSNP Clinvar 		24873369 1389.77 C G VQSRTrancheSNP99.00to99.90 0/1 115 NON_SYNONYMOUS_CODING MODERATE None 0.00100 0.49260 0.49347 0.32 0.00 None None None None None None ARHGAP21|0.073197055|56.74%
View final-ma145 10 rs10734053
dbSNP Clinvar 		24879281 5218.77 A G PASS 1/1 172 None None None 1.00000 1.00000 None None None None None None ARHGAP21|0.073197055|56.74%
View final-ma145 10 rs3748222
dbSNP Clinvar 		24908686 1585.77 T C VQSRTrancheSNP99.00to99.90 0/1 122 NON_SYNONYMOUS_CODING MODERATE None 0.43830 0.43830 0.49047 1.00 0.01 None None None None None None ARHGAP21|0.073197055|56.74%

ARHGAP22
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 final-ma145 10 rs4080665
dbSNP Clinvar 		49687800 1254.77 G A PASS 1/1 33 SYNONYMOUS_CODING LOW None 0.78934 0.78930 0.25035 None None None None None None ARHGAP22|0.033591165|67.92%
View final-ma145 10 rs7089439
dbSNP Clinvar 		49732141 232.77 C T PASS 0/1 18 None None None 0.23063 0.23060 None None None None None None ARHGAP22|0.033591165|67.92%
View final-ma145 10 rs10776601
dbSNP Clinvar 		49659559 7332.77 C T PASS 1/1 230 None None None 0.79193 0.79190 0.68 0.00 None None None None None None ARHGAP22|0.033591165|67.92%
View final-ma145 10 rs72796303
dbSNP Clinvar 		49659644 1476.77 A G PASS 0/1 140 None None None 0.07768 0.07768 None None None None None None ARHGAP22|0.033591165|67.92%
View final-ma145 10 rs3827681
dbSNP Clinvar 		49659637 2227.77 T C PASS 0/1 154 None None None 0.50280 0.50280 0.00 None None None None None None ARHGAP22|0.033591165|67.92%
View final-ma145 10 rs3853761
dbSNP Clinvar 		49667795 4736.77 T C PASS 1/1 159 SYNONYMOUS_CODING LOW None 0.90196 0.90200 0.10449 None None None None None None ARHGAP22|0.033591165|67.92%

ARL5B
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
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 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View final-ma145 10 rs12359433
dbSNP Clinvar 		18964097 729.77 G A PASS 0/1 55 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.02776 0.02776 0.05613 None None None None None None ARL5B|0.398835772|20.86%

ARMC3
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 final-ma145 10 rs11013233
dbSNP Clinvar 		23295903 1912.77 T C PASS 0/1 165 NON_SYNONYMOUS_CODING MODERATE None 0.02157 0.02157 0.02830 0.35 0.00 None None None None None None ARMC3|0.037067211|66.75%
View final-ma145 10 rs10828395
dbSNP Clinvar 		23297252 500.77 G A PASS 0/1 41 NON_SYNONYMOUS_CODING MODERATE None 0.18850 0.18850 0.21215 0.69 0.04 None None None None None None ARMC3|0.037067211|66.75%
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