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Genes:
ABCC2, ABLIM1, ACADSB, ACBD5, ADAM12, ADAM8, ADAMTS14, ADARB2, ADD3, ADIRF, ADO, ADRA2A, ADRB1, AFAP1L2, AGAP6, AGAP7, AGAP9, AIFM2, AKR1C1, AKR1C3, AKR1C4, AKR1CL1, AL133481.1, AL138764.1, AL162407.1, AL359195.1, AL359878.1, ALDH18A1, ALOX5, ANK3, ANKRD16, ANKRD2, ANKRD22, ANKRD26, ANKRD30A, ANTXRL, ANXA11, ANXA7, ANXA8L2, ARHGAP19, ARHGAP21, ARHGAP22, ARMC3, ARMC4, ATE1, ATRNL1, AVPI1, BAG3, BEND7, BICC1, BLNK, BMS1, BTBD16, BTRC, C10ORF68, C10orf107, C10orf11, C10orf111, C10orf120, C10orf128, C10orf25, C10orf35, C10orf53, C10orf54, C10orf62, C10orf67, C10orf71, C10orf90, C10orf91, C10orf95, C1QL3, CACNB2, CALHM1, CALHM3, CALML5, CALY, CAMK1D, CAMK2G, CC2D2B, CCAR1, CCDC3, CCDC6, CCDC7, CCNY, CDH23, CELF2, CEP55, CHAT, CHST15, CHUK, CLRN3, CNNM1, COL13A1, COL17A1, COMMD3-BMI1, COX15, CPEB3, CPXM2, CSGALNACT2, CTBP2, CTNNA3, CUBN, CUL2, CYP26C1, CYP2E1, DCLRE1A, DDX50, DHTKD1, DHX32, DIP2C, DKFZP667F0711, DKK1, DLG5, DMBT1, DNA2, DNAJB12, DNAJC1, DNAJC9, DNMBP, DNTT, DOCK1, DPYSL4, DUSP13, DUSP5, DYDC1, DYDC2, EBLN1, ECD, ECHDC3, ECHS1, EDRF1, EGR2, EIF3A, EMX2, ENO4, ERCC6, ERCC6-PGBD3, ERLIN1, EXOC6, FAM149B1, FAM160B1, FAM170B, FAM171A1, FAM175B, FAM178A, FAM196A, FAM208B, FAM21A, FAM21C, FAM24B, FAM35A, FAM45A, FAS, FBXW4, FGFR2, FRA10AC1, FRG2B, FRMPD2, GBF1, GDF10, GFRA1, GPAM, GPR123, GPR158, GPR26, GPRIN2, GRID1, GRK5, GSTO2, GTPBP4, HECTD2, HIF1AN, HK1, HKDC1, HNRNPF, HOGA1, HPS1, HSPA12A, HSPA14, IDI2, IFIT1, IFIT1B, IFIT2, IFIT3, IFIT5, IL15RA, IL2RA, INA, INPP5A, INPP5F, ITGA8, ITGB1, ITIH2, ITIH5, JAKMIP3, JMJD1C, KAZALD1, KCNMA1, KIAA1217, KIAA1279, KIAA1462, KIF20B, KNDC1, LDB3, LGI1, LHPP, LIPA, LIPF, LIPJ, LIPM, LIPN, LOXL4, LRIT1, LRRC18, LRRC27, LYZL1, LYZL2, LZTS2, MALRD1, MAP3K8, MARCH8, MASTL, MAT1A, MBL2, MCM10, MCMBP, MEIG1, MGMT, MKI67, MKX, MMP21, MMRN2, MMS19, MORN4, MPP7, MRC1, MRC1L1, MRPL43, MSRB2, MTG1, MTPAP, MYO3A, MYOF, MYOZ1, MYPN, NAMPTL, NCOA4, NET1, NEURL1, NEUROG3, NFKB2, NHLRC2, NKX2-3, NKX6-2, NPFFR1, NPS, NPY4R, NRAP, NRG3, NRP1, NSUN6, NUDT5, NUTM2E, OBFC1, OGDHL, OPN4, OPTN, OR13A1, PALD1, PANK1, PAOX, PARD3, PAX2, PBLD, PCDH15, PCGF6, PDCD11, PDCD4, PDE6C, PDLIM1, PDZD7, PDZD8, PFKP, PHYH, PHYHIPL, PI4K2A, PIK3AP1, PIP4K2A, PITRM1, PITX3, PKD2L1, PLAC9, PLAU, PLCE1, PLEKHA1, PLEKHS1, PLXDC2, PNLIP, PNLIPRP1, PNLIPRP2, PNLIPRP3, POLL, PPAPDC1A, PPP2R2D, PRAP1, PRDX3, PRKCQ, PRKG1, PRLHR, PSTK, PTCHD3, PTER, PTF1A, PTPLA, PTPRE, PWWP2B, PYROXD2, R3HCC1L, RAB11FIP2, RASGEF1A, RBM20, RBP3, RET, RGR, RGS10, RNLS, RPP38, RRP12, RSU1, RTKN2, RUFY2, SCD, SEC61A2, SEMA4G, SEPHS1, SFMBT2, SFRP5, SFTPA1, SFTPA2, SFTPD, SFXN4, SGMS1, SGPL1, SH2D4B, SH3PXD2A, SKIDA1, SLC18A3, SLC29A3, SLC39A12, SLIT1, SLK, SMC3, SNCG, SORBS1, SORCS1, SORCS3, SPAG6, SPRN, SRGN, STAMBPL1, STK32C, STOX1, SUFU, SUPV3L1, SVIL, SYT15, TACC2, TACR2, TAF3, TBATA, TBC1D12, TCERG1L, TECTB, TET1, THNSL1, TIMM23, TIMM23B, TLX1NB, TMEM254, TMEM26, TMEM72, TNKS2, TRDMT1, TRUB1, TTC18, TTC40, TUBAL3, TUBB8, TUBGCP2, TYSND1, UCMA, UCN3, USP54, VENTX, VPS26A, VSTM4, VWA2, WAPAL, WBP1L, WDFY4, WDR11, WDR37, WDR96, YME1L1, ZDHHC6, ZEB1, ZFAND4, ZFYVE27, ZMYND11, ZNF239, ZNF33B, ZNF365, ZNF438, ZNF485, ZNF487, ZNF488, ZNF511, ZSWIM8, ZWINT,

Genes at Omim

ABCC2, ACADSB, ADD3, ADRB1, AKR1C4, ALDH18A1, ALOX5, ANK3, ANKRD26, ANXA11, ARMC4, BAG3, BICC1, BLNK, BMS1, CACNB2, CDH23, CEP55, CHAT, CHUK, COL13A1, COL17A1, COX15, CTNNA3, CUBN, CYP26C1, DHTKD1, DNA2, ECHS1, EGR2, EMX2, ERCC6, ERLIN1, FAS, FGFR2, HK1, HOGA1, HPS1, IL2RA, ITGA8, KCNMA1, KIAA1279, LDB3, LGI1, LIPA, LIPN, MAP3K8, MAT1A, MBL2, MMP21, MTPAP, MYO3A, MYPN, NEUROG3, NFKB2, NHLRC2, NKX6-2, OPTN, PAX2, PCDH15, PDE6C, PDZD7, PHYH, PITX3, PLAU, PLCE1, PNLIP, PRKG1, PTF1A, RBM20, RBP3, RET, RGR, SFTPA2, SFXN4, SGPL1, SLC18A3, SLC29A3, SMC3, STOX1, SUFU, TUBB8, WDR11, YME1L1, ZEB1, ZFYVE27, ZMYND11, ZNF365,
ABCC2 Dubin-Johnson syndrome, 237500 (3)
ACADSB 2-methylbutyrylglycinuria, 610006 (3)
ADD3 Cerebral palsy, spastic quadriplegic, 3, 617008 (3)
ADRB1 [Resting heart rate], 607276 (3)
{Congestive heart failure and beta-blocker response, modifier of} (3)
AKR1C4 {46XY sex reversal 8, modifier of}, 614279 (3)
ALDH18A1 Cutis laxa, autosomal dominant 3, 616603 (3)
Cutis laxa, autosomal recessive, type IIIA, 219150 (3)
Spastic paraplegia 9A, autosomal dominant, 601162 (3)
Spastic paraplegia 9B, autosomal recessive, 616586 (3)
ALOX5 {Asthma, diminished response to antileukotriene treatment in}, 600807 (3)
{Atherosclerosis, susceptibility to} (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)
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)
CEP55 Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, 236500 (3)
CHAT Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3)
CHUK Cocoon syndrome, 613630 (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)
CYP26C1 Focal facial dermal dysplasia 4, 614974 (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)
EMX2 Schizencephaly, 269160 (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)
ERLIN1 Spastic paraplegia 62, 615681 (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)
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)
HPS1 Hermansky-Pudlak syndrome 1, 203300 (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)
KCNMA1 Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy, 609446 (3)
?Cerebellar atrophy, developmental delay, and seizures, 617643 (3)
KIAA1279 Goldberg-Shprintzen megacolon syndrome, 609460 (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)
NEUROG3 Diarrhea 4, malabsorptive, congenital, 610370 (3)
NFKB2 Immunodeficiency, common variable, 10, 615577 (3)
NHLRC2 FINCA syndrome, 618278 (3)
NKX6-2 Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 (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)
PRKG1 Aortic aneurysm, familial thoracic 8, 615436 (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)
SUFU Basal cell nevus syndrome, 109400 (3)
{Meningioma, familial, susceptibility to}, 607174 (3)
Joubert syndrome 32, 617757 (3)
Medulloblastoma, desmoplastic, 155255 (3)
TUBB8 Oocyte maturation defect 2, 616780 (3)
WDR11 Hypogonadotropic hypogonadism 14 with or without anosmia, 614858 (3)
YME1L1 ?Optic atrophy 11, 617302 (3)
ZEB1 Corneal dystrophy, Fuchs endothelial, 6, 613270 (3)
Corneal dystrophy, posterior polymorphous, 3, 609141 (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, ACADSB, ADRB1, ALDH18A1, ALOX5, ANKRD26, ARMC4, BAG3, BICC1, BLNK, BMS1, CACNB2, CDH23, CHAT, CHUK, COL13A1, COL17A1, COX15, CTNNA3, CUBN, CYP26C1, DHTKD1, DNA2, ECHS1, EGR2, EMX2, ERCC6, ERLIN1, FAS, FGFR2, HK1, HOGA1, HPS1, IL2RA, ITGA8, KCNMA1, LDB3, LGI1, LIPA, LIPN, MASTL, MAT1A, MBL2, MMP21, MTPAP, MYO3A, MYPN, NEUROG3, NFKB2, OPTN, PAX2, PCDH15, PDE6C, PDZD7, PHYH, PITX3, PLAU, PLCE1, PRKG1, PTF1A, RBM20, RBP3, RET, RGR, SFTPA2, SFXN4, SLC29A3, SMC3, SUFU, TUBB8, WDR11, ZEB1, ZFYVE27, ZMYND11,
ABCC2 Dubin-Johnson syndrome
ACADSB 2-methylbutyryl-CoA dehydrogenase deficiency
ADRB1 Beta-blocker response, association with
ALDH18A1 Cutis laxa, autosomal dominant 3
Spastic paraplegia 9A, autosomal dominant
Cutis laxa, autosomal recessive, type IIIA
Spastic paraplegia 9B, autosomal recessive
ALOX5 Asthma, diminished response to antileukotriene treatment in
ANKRD26 Thrombocytopenia 2
ARMC4 Ciliary dyskinesia, primary, 23
BAG3 Cardiomyopathy, dilated, 1HH
Myopathy, myofibrillar 6
BICC1 Renal dysplasia, cystic, susceptibility to
BLNK Agammaglobulinemia 4
BMS1 Aplasia cutis congenita, nonsyndromic
CACNB2 Brugada syndrome 4
CDH23 Deafness, autosomal recessive 12
Usher syndrome, type 1D
Usher syndrome, type 1D /F digenic
CHAT Myasthenic syndrome, congenital 6, presynaptic
CHUK Cocoon syndrome
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
CYP26C1 Focal facial dermal dysplasia 4
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
EMX2 Schizencephaly
ERCC6 Xeroderma Pigmentosum-Cockayne Syndrome
De Sanctis-Cacchione syndrome
Premature ovarian failure 11 (AD)
ERLIN1 Spastic paraplegia 62, autosomal recessive
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
HK1 Hemolytic anemia, nonspherocytic, due to hexokinase deficiency
HOGA1 Hyperoxaluria, primary, type III
HPS1 Hermansky-Pudlak syndrome 1
IL2RA Interleukin 2 receptor, alpha, deficiency of
ITGA8 Renal agenesis, bilateral
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
NEUROG3 Diarrhea 4, malabsorptive, congenital
NFKB2 Immunodeficiency, common variable, 10
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
PRKG1 Aortic aneurysm, familial thoracic 8
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
SUFU Medulloblastoma
Basal cell nevus syndrome
TUBB8 Oocyte maturation defect 2
WDR11 Hypogonadotropic hypogonadism
Kallmann syndrome
ZEB1 Corneal dystrophy, Fuchs endothelial 6
Corneal dystrophy, posterior polymorphous, 3
ZFYVE27 Spastic paraplegia 33, autosomal dominant
ZMYND11 Mental retardation, autosomal domianant, 30

Genes at HGMD

Summary

Number of Variants: 10062
Number of Genes: 419

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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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs927344
dbSNP Clinvar
101544447 2243.77 A T . 1/1 66 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%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs3740066
dbSNP Clinvar
101604207 492.77 C T . 0/1 37 SYNONYMOUS_CODING LOW None 0.28814 0.28810 0.33354 None None None None None None ABCC2|0.186653982|38.2%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs2273697
dbSNP Clinvar
101563815 585.77 G A . 0/1 53 NON_SYNONYMOUS_CODING MODERATE None 0.18650 0.18650 0.19214 0.15 0.03 None None None None None None ABCC2|0.186653982|38.2%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs17222617
dbSNP Clinvar
101578952 402.77 T G . 0/1 34 NON_SYNONYMOUS_CODING MODERATE None 0.00699 0.00699 0.01130 0.09 0.03 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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs985273
dbSNP Clinvar
116335246 683.77 G A . 0/1 47 SYNONYMOUS_CODING LOW None 0.30451 0.30450 0.26695 None None None None None None ABLIM1|0.44358146|18.51%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs2247528
dbSNP Clinvar
116307504 601.77 A G . 0/1 38 SYNONYMOUS_CODING LOW None 0.78315 0.78310 0.20821 None None None None None None ABLIM1|0.44358146|18.51%

ACADSB

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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs1140591
dbSNP Clinvar
124800853 1796.77 C T . 0/1 121 SYNONYMOUS_CODING LOW None 0.22784 0.22780 0.22813 None None None None None None ACADSB|0.041043879|65.42%

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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs7918793
dbSNP Clinvar
27497191 1203.77 G A . 0/1 78 NON_SYNONYMOUS_CODING MODERATE None 0.07288 0.07288 0.05951 0.05 0.33 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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs2279091
dbSNP Clinvar
127753388 412.77 C T . 0/1 26 SYNONYMOUS_CODING LOW None 0.07548 0.07548 0.09920 None None None None None None ADAM12|0.075293986|56.23%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs3740199
dbSNP Clinvar
128019025 1508.77 C G . 1/1 47 NON_SYNONYMOUS_CODING MODERATE None 0.00140 0.00140 0.42803 0.33 0.00 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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs1131719
dbSNP Clinvar
135085426 3552.77 A G . 1/1 96 SYNONYMOUS_CODING LOW None 0.91893 0.91890 0.08042 None None None None None None ADAM8|0.004556093|86.35%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs1131720
dbSNP Clinvar
135085321 3287.77 C T . 1/1 93 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.84665 0.84660 0.15147 None None None None None None ADAM8|0.004556093|86.35%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs3008319
dbSNP Clinvar
135077265 599.77 A G . 0/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.06809 0.06809 0.07714 0.18 0.01 None None None None None None ADAM8|0.004556093|86.35%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs2275725
dbSNP Clinvar
135089035 2975.77 A G . 1/1 89 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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs1131718
dbSNP Clinvar
135085754 3119.77 G A . 1/1 91 SYNONYMOUS_CODING LOW None 0.88359 0.88360 0.12098 None None None None None None ADAM8|0.004556093|86.35%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs3008326
dbSNP Clinvar
135087521 828.77 G A . 0/1 87 SYNONYMOUS_CODING LOW None 0.72424 0.72420 0.28998 None None None None None None ADAM8|0.004556093|86.35%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs2275720
dbSNP Clinvar
135082346 819.77 A G . 0/1 80 NON_SYNONYMOUS_CODING MODERATE None 0.82428 0.82430 0.19900 0.68 0.00 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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs10823607
dbSNP Clinvar
72500763 2136.77 T C . 1/1 66 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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs10999500
dbSNP Clinvar
72500863 933.77 C G . 0/1 62 SYNONYMOUS_CODING LOW None 0.66713 0.66710 0.38190 None None None None None None ADAMTS14|0.04385867|64.56%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs10999502
dbSNP Clinvar
72503344 1303.77 G A . 0/1 91 SYNONYMOUS_CODING LOW None 0.31150 0.31150 0.19868 None None None None None None ADAMTS14|0.04385867|64.56%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs12774070
dbSNP Clinvar
72513635 1463.77 C A . 0/1 92 NON_SYNONYMOUS_CODING MODERATE None 0.16014 0.16010 0.19512 0.01 0.91 None None None None None None ADAMTS14|0.04385867|64.56%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs2587475
dbSNP Clinvar
72513682 1343.77 C T . 0/1 80 SYNONYMOUS_CODING LOW None 0.52516 0.52520 0.45384 None None None None None None ADAMTS14|0.04385867|64.56%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs61573157
dbSNP Clinvar
72520259 1221.77 C T . 0/1 96 NON_SYNONYMOUS_CODING MODERATE None 0.06629 0.06629 0.07796 0.75 0.00 None None None None None None ADAMTS14|0.04385867|64.56%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs10823615
dbSNP Clinvar
72520330 1409.77 A G . 0/1 127 SYNONYMOUS_CODING LOW None 0.00140 0.38600 0.36422 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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs35356097
dbSNP Clinvar
1279760 917.77 C T . 0/1 62 SYNONYMOUS_CODING LOW None 0.00599 0.00599 0.00830 None None None None None None ADARB2|0.14627916|43.56%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs2271275
dbSNP Clinvar
1230968 407.77 C T . 0/1 21 NON_SYNONYMOUS_CODING MODERATE None 0.54313 0.54310 0.43947 0.25 0.08 None None None None None None ADARB2|0.14627916|43.56%

ADD3

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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs41291886
dbSNP Clinvar
111872643 944.77 T C . 0/1 65 NON_SYNONYMOUS_CODING MODERATE None 0.01777 0.01777 0.01246 0.12 0.45 None None None None None None ADD3|0.618238528|11.15%

ADIRF

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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs4869
dbSNP Clinvar
88730312 1849.77 T C . 0/1 140 SYNONYMOUS_CODING LOW None 0.52716 0.52720 0.48224 None None None None None None ADIRF|0.020192818|74.07%

ADO

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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs2236295
dbSNP Clinvar
64564892 974.77 G T . 0/1 55 NON_SYNONYMOUS_CODING MODERATE None 0.21166 0.21170 0.26402 0.09 0.58 None None None None None None ADO|0.461596231|17.6%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs10995311
dbSNP Clinvar
64564934 1075.77 C G . 0/1 86 NON_SYNONYMOUS_CODING MODERATE None 0.24541 0.24540 0.30918 0.16 0.00 None None None None None None ADO|0.461596231|17.6%

ADRA2A

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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs1800038
dbSNP Clinvar
112838892 953.77 C A . 0/1 63 SYNONYMOUS_CODING LOW None 0.13199 0.13200 0.02968 None None None None None None ADRA2A|0.119282208|47.55%

ADRB1

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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs1801253
dbSNP Clinvar
115805056 797.77 G C . 0/1 57 NON_SYNONYMOUS_CODING MODERATE None 0.70168 0.70170 0.30033 1.00 0.00 None None rs1801253 6 Congestive_heart_failure_and_beta-blocker_response\x2c_modifier_of None ADRB1|0.666700808|9.49%

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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs74928179
dbSNP Clinvar
116085784 1433.73 C CCCG . 0/1 74 CODON_INSERTION MODERATE None None None None None None None AFAP1L2|0.092781823|52.66%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs117043677
dbSNP Clinvar
116091629 308.77 T C . 0/1 31 NON_SYNONYMOUS_CODING MODERATE None 0.00419 0.00419 0.00534 0.05 0.91 None None None None None None AFAP1L2|0.092781823|52.66%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs2286396
dbSNP Clinvar
116060387 4219.77 T C . 1/1 127 SYNONYMOUS_CODING LOW None 0.64157 0.64160 0.31855 None None None None None None AFAP1L2|0.092781823|52.66%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs3813722
dbSNP Clinvar
116073696 779.77 C T . 0/1 68 SYNONYMOUS_CODING LOW None 0.58486 0.58490 0.42019 None None None None None None AFAP1L2|0.092781823|52.66%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs73365341
dbSNP Clinvar
116064528 594.77 G A . 0/1 44 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%

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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs61848260
dbSNP Clinvar
51748684 36.74 G A . 1/1 3 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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs61850063
dbSNP Clinvar
51464656 44.74 G C . 1/1 5 NON_SYNONYMOUS_CODING MODERATE None 0.40355 0.40360 0.08 0.79 None None None None None None AGAP7P|0.001668593|92.02%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs61850064
dbSNP Clinvar
51465552 38.74 A T . 1/1 4 NON_SYNONYMOUS_CODING MODERATE None 1.00 0.00 None None None None None None AGAP7P|0.001668593|92.02%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs199898426
dbSNP Clinvar
51465650 88.03 C T . 1/1 18 NON_SYNONYMOUS_CODING MODERATE None 0.38059 0.38060 0.02 0.85 None None None None None None AGAP7P|0.001668593|92.02%

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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs200283865
dbSNP Clinvar
48235892 178.77 C T . 0/1 23 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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs2271696
dbSNP Clinvar
71874683 2701.77 G A . 1/1 87 SYNONYMOUS_CODING LOW None 0.14177 0.14180 0.10357 None None None None None None AIFM2|0.142363482|44.1%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs2271695
dbSNP Clinvar
71874734 3829.77 G A . 1/1 114 SYNONYMOUS_CODING LOW None 0.14157 0.14160 0.10426 None None None None None None AIFM2|0.142363482|44.1%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs61736904
dbSNP Clinvar
71874866 1159.77 T C . 0/1 89 SYNONYMOUS_CODING LOW None 0.07169 0.07169 0.09065 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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs1138600
dbSNP Clinvar
5010572 875.77 A G . 1/1 91 PROTEIN_STRUCTURAL_INTERACTION_LOCUS HIGH None 0.99720 0.99720 None None None None None None AKR1C1|0.0017482|91.68%

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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs12529
dbSNP Clinvar
5136651 746.77 C G . 0/1 41 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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs12387
dbSNP Clinvar
5139685 1629.77 G A . 1/1 49 SYNONYMOUS_CODING LOW None 0.84824 0.84820 0.15693 None None None None None None AKR1C3|0.002438134|89.81%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs4881396
dbSNP Clinvar
5120157 920.77 G T . 1/1 29 None None None 0.87201 0.87200 0.71 0.04 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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs4880718
dbSNP Clinvar
5255025 1383.77 A G . 1/1 40 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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs17306779
dbSNP Clinvar
5242164 768.77 A G . 0/1 51 SYNONYMOUS_CODING LOW None 0.16514 0.16510 0.18853 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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs1781935
dbSNP Clinvar
5199934 835.77 G C . 0/1 67 None None None 0.60204 0.60200 0.01 0.95 None None None None None None None
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs2801889
dbSNP Clinvar
5202104 113.03 C T . 1/1 4 None None None 0.97764 0.97760 1.00 0.00 None None None None None None None
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs1781931
dbSNP Clinvar
5197881 333.77 A G . 0/1 20 None None None 0.20228 0.20230 None None None None None None None

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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs3867204
dbSNP Clinvar
81270319 405.77 T A . 0/1 76 NON_SYNONYMOUS_START LOW None 0.00 None None None None None None None

AL138764.1

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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs72781379
dbSNP Clinvar
13350198 872.77 G C . 0/1 64 NON_SYNONYMOUS_CODING MODERATE None 0.04553 0.04553 1.00 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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs7895609
dbSNP Clinvar
115675025 2167.77 G A . 0/1 175 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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs12219032
dbSNP Clinvar
82012599 715.77 T C . 0/1 65 SYNONYMOUS_CODING LOW None 0.27576 0.27580 None None None None None None None
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs12217395
dbSNP Clinvar
82012748 902.77 G A . 0/1 77 NON_SYNONYMOUS_CODING MODERATE None 0.27556 0.27560 0.18 0.00 None None None None None None None
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs71481580
dbSNP Clinvar
82012791 1012.77 G T . 0/1 97 NON_SYNONYMOUS_CODING MODERATE None 0.02875 0.02875 0.29 0.00 None None None None None None None
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs12773664
dbSNP Clinvar
82012954 1129.77 A G . 0/1 103 NON_SYNONYMOUS_CODING MODERATE None 0.40895 0.40890 0.80 0.07 None None None None None None None
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs12411782
dbSNP Clinvar
82012967 1187.77 G T . 0/1 101 NON_SYNONYMOUS_CODING MODERATE None 0.27097 0.27100 0.01 0.52 None None None None None None None
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs35266651
dbSNP Clinvar
82013022 1179.77 G A . 0/1 101 SYNONYMOUS_CODING LOW None 0.01837 0.01837 None None None None None None None
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs12411806
dbSNP Clinvar
82013119 1203.77 G A . 0/1 81 NON_SYNONYMOUS_CODING MODERATE None 0.27296 0.27300 0.76 0.93 None None None None None None None
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs1298908
dbSNP Clinvar
82013134 1061.77 C T . 0/1 78 NON_SYNONYMOUS_CODING MODERATE None 0.58926 0.58930 0.24 0.00 None None None None None None None
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs2573326
dbSNP Clinvar
82013146 1130.77 T C . 0/1 78 NON_SYNONYMOUS_CODING MODERATE None 0.59844 0.59840 1.00 0.00 None None None None None None None

AL359878.1

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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs4880745
dbSNP Clinvar
1018585 1515.77 T G . 0/1 132 NON_SYNONYMOUS_CODING MODERATE None 0.58706 0.58710 0.41 None None None None None None None

ALDH18A1

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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs2275272
dbSNP Clinvar
97388162 760.77 G A . 0/1 76 NON_SYNONYMOUS_CODING MODERATE None 0.07169 0.07169 0.10118 0.07 0.15 None None None None None None ALDH18A1|0.458870791|17.74%

ALOX5

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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs2228064
dbSNP Clinvar
45878050 830.77 G A . 0/1 62 SYNONYMOUS_CODING LOW None 0.12121 0.12120 0.09757 None None None None None None ALOX5|0.283681032|28.83%

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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs12261793
dbSNP Clinvar
61815712 1046.77 T C . 0/1 88 NON_SYNONYMOUS_CODING MODERATE None 0.03235 0.03235 0.03314 1.00 0.00 None None rs12261793 3 not_specified None ANK3|0.919303788|3%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs77740274
dbSNP Clinvar
61834166 1855.77 A G . 0/1 105 NON_SYNONYMOUS_CODING MODERATE None 0.00719 0.00719 0.00815 0.00 0.32 None None None None None None ANK3|0.919303788|3%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs3750800
dbSNP Clinvar
61868716 798.77 C A . 0/1 41 SYNONYMOUS_CODING LOW None 0.17911 0.17910 0.23958 None None rs3750800 3 not_specified None ANK3|0.919303788|3%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs2297979
dbSNP Clinvar
61965625 1075.77 A G . 0/1 90 SYNONYMOUS_CODING LOW None 0.15156 0.15160 0.18176 None None None None None None ANK3|0.919303788|3%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs71495633
dbSNP Clinvar
62029934 1272.77 G C . 0/1 96 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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs1052420
dbSNP Clinvar
5920121 4292.77 T C . 1/1 135 NON_SYNONYMOUS_CODING MODERATE None 0.80391 0.80390 0.17846 0.33 0.00 None None None None None None ANKRD16|0.021840736|73.25%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs631947
dbSNP Clinvar
5925971 2857.77 C A . 1/1 88 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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs7094973
dbSNP Clinvar
99337572 292.77 G A . 0/1 23 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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs12221474
dbSNP Clinvar
99332488 489.77 A C . 0/1 47 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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs7893917
dbSNP Clinvar
90585819 734.77 G A . 0/1 51 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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs7897309
dbSNP Clinvar
27389197 574.77 T C . 0/1 46 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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs1209750
dbSNP Clinvar
37488689 626.77 G C . 0/1 49 NON_SYNONYMOUS_CODING MODERATE None 0.48223 0.48220 0.40331 0.27 0.02 None None None None None None ANKRD30A|0.001436042|93.14%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs34552277
dbSNP Clinvar
37505159 139.77 G A . 0/1 21 NON_SYNONYMOUS_CODING MODERATE None 0.22764 0.22760 0.28179 0.16 0.04 None None None None None None ANKRD30A|0.001436042|93.14%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs57914746
dbSNP Clinvar
37505179 235.77 T C . 0/1 21 SYNONYMOUS_CODING LOW None 0.15875 0.15870 0.21071 None None None None None None ANKRD30A|0.001436042|93.14%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs1148259
dbSNP Clinvar
37508450 772.77 A C . 0/1 67 SYNONYMOUS_CODING LOW None 0.53355 0.53350 0.40857 None None None None None None ANKRD30A|0.001436042|93.14%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs202149101
dbSNP Clinvar
37433929 70.77 G T . 0/1 28 NON_SYNONYMOUS_CODING MODERATE None 0.18 0.00 None None None None None None ANKRD30A|0.001436042|93.14%

ANTXRL

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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs7091749
dbSNP Clinvar
47701302 2278.77 G C . 0/1 98 SYNONYMOUS_CODING LOW None 0.01078 0.80850 None None None None None None ANTXRL|0.000107209|99.93%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs61845226
dbSNP Clinvar
47669277 1101.77 C G . 0/1 58 NON_SYNONYMOUS_CODING MODERATE None 0.34285 0.34290 0.14 0.63 None None None None None None ANTXRL|0.000107209|99.93%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs4409768
dbSNP Clinvar
47668707 1115.77 T C . 0/1 52 SYNONYMOUS_CODING LOW None 0.34305 0.34310 None None None None None None ANTXRL|0.000107209|99.93%

ANXA11

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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs2228427
dbSNP Clinvar
81926718 563.77 A G . 0/1 63 SYNONYMOUS_CODING LOW None 0.10843 0.10840 0.10757 None None None None None None ANXA11|0.080075284|55.15%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs2229554
dbSNP Clinvar
81927059 1151.77 C T . 0/1 67 NON_SYNONYMOUS_CODING MODERATE None 0.02196 0.02196 0.04759 0.56 0.94 None None None None None None ANXA11|0.080075284|55.15%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs1049550
dbSNP Clinvar
81926702 982.77 G A . 0/1 56 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%

ANXA7

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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs2234965
dbSNP Clinvar
75148116 1724.77 A G . 0/1 130 SYNONYMOUS_CODING LOW None 0.17652 0.17650 0.09403 None None None None None None ANXA7|0.358966366|23.51%

ANXA8L2

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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs77623921
dbSNP Clinvar
47756065 166.77 C T . 0/1 51 SYNONYMOUS_CODING LOW None 0.13877 None None None None None None None

ARHGAP19

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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs2253301
dbSNP Clinvar
99019177 3357.77 A G . 1/1 104 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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs10734053
dbSNP Clinvar
24879281 2696.77 A G . 1/1 84 None None None 1.00000 1.00000 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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs10776601
dbSNP Clinvar
49659559 2457.77 C T . 1/1 73 None None None 0.79193 0.79190 0.68 0.00 None None None None None None ARHGAP22|0.033591165|67.92%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs3827681
dbSNP Clinvar
49659637 590.77 T C . 0/1 48 None None None 0.50280 0.50280 0.00 None None None None None None ARHGAP22|0.033591165|67.92%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs3853761
dbSNP Clinvar
49667795 1582.77 T C . 1/1 51 SYNONYMOUS_CODING LOW None 0.90196 0.90200 0.10449 None None None None None None ARHGAP22|0.033591165|67.92%
View index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs4080665
dbSNP Clinvar
49687800 1215.77 G A . 1/1 36 SYNONYMOUS_CODING LOW None 0.78934 0.78930 0.25035 None None None None None None ARHGAP22|0.033591165|67.92%

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 index34_otb3338_gerard goyette_500-049a-2_human_hex_av5-utr_50x_06112016 deduplicated realigned recalibrated snpeff snpsift 10 rs10828395
dbSNP Clinvar
23297252 519.77 G A . 0/1 38 NON_SYNONYMOUS_CODING MODERATE None 0.18850 0.18850 0.21215 0.69 0.02 None None None None None None ARMC3|0.037067211|66.75%
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