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+ Genes 356

Genes:
ABCC2, ABLIM1, ACADSB, ADAM12, ADAM8, ADAMTS14, ADARB2, ADRB1, AFAP1L2, AGAP6, AGAP8, AIFM2, AKR1C2, AKR1C3, AKR1C4, AKR1CL1, AL162407.1, AL359195.1, AL450307.1, ANK3, ANKRD16, ANKRD2, ANKRD22, ANKRD26, ANKRD30A, ANXA11, ARHGAP19, ARHGAP21, ARHGAP22, ARMC3, ARMC4, ATE1, ATRNL1, AVPI1, BEND7, BLNK, BMS1, BTBD16, BTRC, C10ORF68, C10orf10, C10orf107, C10orf113, C10orf118, C10orf120, C10orf128, C10orf129, C10orf25, C10orf35, C10orf53, C10orf54, C10orf62, C10orf67, C10orf71, C10orf90, C10orf99, C1QL3, CACNB2, CALHM1, CALHM3, CALML3, CALML5, CAMK1D, CAMK2G, CASP7, CCAR1, CCDC147, CCDC3, CCDC6, CDH23, CDHR1, CELF2, CEP55, CHAT, CHST3, CHUK, CNNM1, CNNM2, COL13A1, COL17A1, COX15, CPEB3, CPXM2, CRTAC1, CSGALNACT2, CTBP2, CTNNA3, CUBN, CYP17A1, CYP26C1, CYP2C19, CYP2C8, CYP2C9, CYP2E1, DCLRE1A, DCLRE1C, DDX50, DHTKD1, DHX32, DIP2C, DKK1, DLG5, DMBT1, DNMBP, DNTT, DOCK1, DPCD, DPYSL4, DUSP13, DUSP5, DYDC2, EBLN1, ECHDC3, ECHS1, EGR2, EIF3A, EIF4EBP2, ENTPD1, EPC1, ERCC6, ERCC6-PGBD3, ERLIN1, EXOC6, EXOSC1, FAM160B1, FAM170B, FAM171A1, FAM175B, FAM196A, FAM208B, FAM24B, FAM45A, FANK1, FAS, FBXO18, FFAR4, FGFR2, FRA10AC1, FRMD4A, FRMPD2, GBF1, GFRA1, GJD4, GLRX3, GPAM, GPR123, GPR158, GPR26, GPRIN2, GSTO1, GSTO2, HABP2, HECTD2, HELLS, HERC4, HK1, HKDC1, HOGA1, HPS1, IFIT1, IFIT1B, IFIT2, IFIT3, IFIT5, IL15RA, ITGA8, ITGB1, ITIH2, ITIH5, JAKMIP3, JMJD1C, KAZALD1, KCNMA1, KIAA1217, KIAA1279, KIAA1462, KIF20B, KNDC1, LBX1, LDB3, LGI1, LHPP, LIPA, LIPJ, LIPM, LIPN, LOXL4, LRIT1, LRIT2, LRRC18, LRRC27, LYZL1, LYZL2, LZTS2, MALRD1, MAT1A, MBL2, MEIG1, METTL10, MGMT, MKI67, MLLT10, MMP21, MMRN2, MMS19, MPP7, MRPL43, MTG1, MYO3A, MYOF, MYPN, NAMPTL, NCOA4, NET1, NEURL1, NEUROG3, NFKB2, NKX2-3, NKX6-2, NOC3L, NODAL, NPY4R, NRAP, NRG3, NRP1, NT5C2, NUDT5, OBFC1, OGDHL, OLAH, OPN4, OPTN, PALD1, PANK1, PAOX, PARD3, PAX2, PBLD, PCDH15, PDCD11, PDCD4, PDE6C, PFKP, PHYH, PHYHIPL, PIK3AP1, PIP4K2A, PITRM1, PITX3, PLAU, PLCE1, PLEKHA1, PLXDC2, PNLIP, PNLIPRP1, PNLIPRP2, PNLIPRP3, PPAPDC1A, PRAP1, PRDX3, PRF1, PRKCQ, PRLHR, PRPF18, PRR26, PSD, PSTK, PTCHD3, PTF1A, PTPLA, PTPRE, PWWP2B, PYROXD2, R3HCC1L, RAB11FIP2, RBM20, RBP4, RET, RNLS, RRP12, RTKN2, RUFY2, SEC23IP, SEC61A2, SEMA4G, SEPHS1, SFMBT2, SFRP5, SFTPA2, SFTPD, SFXN4, SGMS1, SGPL1, SH2D4B, SH3PXD2A, SKIDA1, SLC18A3, SLC29A3, SLC39A12, SLIT1, SLK, SMC3, SORBS1, SORCS3, SPAG6, SRGN, STAM, STK32C, STOX1, SUV39H2, SVIL, SYT15, TACC2, TACR2, TAF3, TAF5, TBATA, TBC1D12, TCF7L2, TCTN3, TECTB, TET1, THNSL1, TMEM180, TMEM254, TMEM26, TRDMT1, TTC40, TUBAL3, TUBB8, TUBGCP2, TYSND1, UCMA, UNC5B, VCL, VTI1A, VWA2, WAPAL, WBP1L, WDFY4, WDR11, WDR37, YME1L1, ZDHHC6, ZFYVE27, ZMIZ1, ZMYND11, ZNF239, ZNF33B, ZNF365, ZNF37A, ZNF438, ZNF487, ZNF488, ZSWIM8, ZWINT,

+ Genes associated with diseases 91

Genes at Omim

ABCC2, ACADSB, ADRB1, AKR1C2, AKR1C4, ANK3, ANKRD26, ANXA11, ARMC4, BLNK, BMS1, CACNB2, CDH23, CDHR1, CEP55, CHAT, CHST3, CHUK, CNNM2, COL13A1, COL17A1, COX15, CTNNA3, CUBN, CYP17A1, CYP26C1, CYP2C8, CYP2C9, DCLRE1C, DHTKD1, ECHS1, EGR2, ENTPD1, ERCC6, ERLIN1, FAS, FFAR4, FGFR2, FRMD4A, HABP2, HELLS, HK1, HOGA1, HPS1, ITGA8, KCNMA1, KIAA1279, LDB3, LGI1, LIPA, LIPN, MAT1A, MBL2, MMP21, MYO3A, MYPN, NEUROG3, NFKB2, NKX6-2, NODAL, NT5C2, OPTN, PAX2, PCDH15, PDE6C, PHYH, PITX3, PLAU, PLCE1, PNLIP, PRF1, PTF1A, RBM20, RBP4, RET, SFTPA2, SFXN4, SGPL1, SLC18A3, SLC29A3, SMC3, STOX1, TCF7L2, TCTN3, TUBB8, VCL, WDR11, YME1L1, ZFYVE27, ZMYND11, ZNF365,
ABCC2 Dubin-Johnson syndrome, 237500 (3)
ACADSB 2-methylbutyrylglycinuria, 610006 (3)
ADRB1 [Resting heart rate], 607276 (3)
{Congestive heart failure and beta-blocker response, modifier of} (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)
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)
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)
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)
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)
ENTPD1 Spastic paraplegia 64, autosomal recessive, 615683 (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)
FFAR4 {Obesity, susceptibility to}, 607514 (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)
HELLS Immunodeficiency-centromeric instability-facial anomalies syndrome 4, 616911 (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)
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)
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)
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)
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)
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)
RBP4 Microphthalmia, isolated, with coloboma 10, 616428 (3)
Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, 615147 (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)
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)
TCF7L2 {Diabetes mellitus, type 2, susceptibility to}, 125853 (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)
WDR11 Hypogonadotropic hypogonadism 14 with or without anosmia, 614858 (3)
YME1L1 ?Optic atrophy 11, 617302 (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, AKR1C2, ANKRD26, ARMC4, BLNK, BMS1, CACNB2, CDH23, CDHR1, CHAT, CHST3, CHUK, CNNM2, COL13A1, COL17A1, COX15, CTNNA3, CUBN, CYP17A1, CYP26C1, CYP2C19, CYP2C8, CYP2C9, DCLRE1C, DHTKD1, ECHS1, EGR2, ENTPD1, ERCC6, ERLIN1, FAS, FGFR2, FRMD4A, HABP2, HELLS, HK1, HOGA1, HPS1, ITGA8, KCNMA1, LDB3, LGI1, LIPA, LIPN, MAT1A, MBL2, MMP21, MYO3A, MYPN, NEUROG3, NFKB2, NODAL, NT5C2, OPTN, PAX2, PCDH15, PDE6C, PHYH, PITX3, PLAU, PLCE1, PRF1, PTF1A, RBM20, RBP4, RET, SFTPA2, SFXN4, SLC29A3, SMC3, TCTN3, TUBB8, VCL, WDR11, ZFYVE27, ZMYND11,
ABCC2 Dubin-Johnson syndrome
ACADSB 2-methylbutyryl-CoA dehydrogenase deficiency
ADRB1 Beta-blocker response, association with
AKR1C2 46,XY sex reversal 8
ANKRD26 Thrombocytopenia 2
ARMC4 Ciliary dyskinesia, primary, 23
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
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
CYP17A1 Adrenal hyperplasia, congenital, due to 17-alpha-hydroxylase deficiency
CYP26C1 Focal facial dermal dysplasia 4
CYP2C19 Drug metabolism, CYP2C19-related
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
ECHS1 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
EGR2 Charcot-Marie-Tooth disease, demyelinating, type 1D
Neuropathy, congenital hypomyelinating, 1
Dejerine-Sottas disease
ENTPD1 Spastic paraplegia 64
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
FRMD4A Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia (Fine-Flusser syndrome)
HABP2 Thyroid cancer, nonmedullary 5
HELLS Immunodeficiency-centromeric instability-facial anomalies syndrome 4
HK1 Hemolytic anemia, nonspherocytic, due to hexokinase deficiency
HOGA1 Hyperoxaluria, primary, type III
HPS1 Hermansky-Pudlak syndrome 1
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
MAT1A Methionine adenosyltransferase deficiency
MBL2 Mannose-binding protein deficiency
MMP21 Heterotaxy, visceral, 7
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
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
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
RBP4 Retinol dystrophy, iris coloboma, and comedogenic acne syndrome
RET Central hypoventilation syndrome, congenital
Multiple endocrine neoplasia, type IIA
Multiple endocrine neoplasia IIB
Medullary thyroid carcinoma, familial
Pheochromocytoma
Hirschsprung disease, susceptibility to 1
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
WDR11 Hypogonadotropic hypogonadism
Kallmann syndrome
ZFYVE27 Spastic paraplegia 33, autosomal dominant
ZMYND11 Mental retardation, autosomal domianant, 30

Genes at HGMD

Summary

Number of Variants: 3312
Number of Genes: 356

Export to: CSV

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 1313946 10 rs1137968
dbSNP Clinvar 		101606861 206.0 G T . 0/1 0 SYNONYMOUS_CODING LOW None 0.03814 0.03814 0.06151 None None None None None None ABCC2|0.186653982|38.2%
View 1313946 10 . 101559028 225.0 T C . 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.06 0.00 None None None None None None ABCC2|0.186653982|38.2%
View 1313946 10 rs927344
dbSNP Clinvar 		101544447 222.0 A T . 1/1 0 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 1313946 10 rs8187707
dbSNP Clinvar 		101610533 225.0 C T . 0/1 0 SYNONYMOUS_CODING LOW None 0.03095 0.03095 0.05321 None None None None None None ABCC2|0.186653982|38.2%
View 1313946 10 rs17222723
dbSNP Clinvar 		101595996 225.0 T A . 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.03734 0.03734 0.06097 1.00 0.01 None None None None None None ABCC2|0.186653982|38.2%
View 1313946 10 rs8187710
dbSNP Clinvar 		101611294 225.0 G A . 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.06789 0.06789 0.09419 0.35 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 1313946 10 rs2247528
dbSNP Clinvar 		116307504 118.0 A G . 0/1 0 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 1313946 10 rs12263012
dbSNP Clinvar 		124768583 131.0 G A . 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.20607 0.20610 0.27423 0.96 0.01 None None None None None None ACADSB|0.041043879|65.42%

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 1313946 10 rs1044122
dbSNP Clinvar 		127724778 225.0 A G . 0/1 0 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 1313946 10 rs3008326
dbSNP Clinvar 		135087521 222.0 G A . 1/1 0 SYNONYMOUS_CODING LOW None 0.72424 0.72420 0.28998 None None None None None None ADAM8|0.004556093|86.35%
View 1313946 10 rs2275725
dbSNP Clinvar 		135089035 222.0 A G . 1/1 0 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 1313946 10 rs1131720
dbSNP Clinvar 		135085321 222.0 C T . 1/1 0 SYNONYMOUS_CODING LOW None 0.84665 0.84660 0.15147 None None None None None None ADAM8|0.004556093|86.35%
View 1313946 10 rs2275720
dbSNP Clinvar 		135082346 222.0 A G . 1/1 0 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%
View 1313946 10 rs1131719
dbSNP Clinvar 		135085426 222.0 A G . 1/1 0 SYNONYMOUS_CODING LOW None 0.91893 0.91890 0.08042 None None None None None None ADAM8|0.004556093|86.35%
View 1313946 10 rs1131718
dbSNP Clinvar 		135085754 222.0 G A . 1/1 0 SYNONYMOUS_CODING LOW None 0.88359 0.88360 0.12098 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 1313946 10 rs6480463
dbSNP Clinvar 		72517837 225.0 C T . 0/1 0 SYNONYMOUS_CODING LOW None 0.51697 0.51700 0.42903 None None None None None None ADAMTS14|0.04385867|64.56%
View 1313946 10 rs10823607
dbSNP Clinvar 		72500763 225.0 T C . 0/1 0 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 1313946 10 rs10999516
dbSNP Clinvar 		72517830 181.0 G A . 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.21346 0.21350 0.16554 0.14 0.40 None None None None None None ADAMTS14|0.04385867|64.56%
View 1313946 10 rs10999500
dbSNP Clinvar 		72500863 225.0 C G . 0/1 0 SYNONYMOUS_CODING LOW None 0.66713 0.66710 0.38190 None None None None None None ADAMTS14|0.04385867|64.56%
View 1313946 10 rs2587475
dbSNP Clinvar 		72513682 190.0 C T . 0/1 0 SYNONYMOUS_CODING LOW None 0.52516 0.52520 0.45384 None None None None None None ADAMTS14|0.04385867|64.56%
View 1313946 10 rs4747096
dbSNP Clinvar 		72518009 225.0 A G . 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.21805 0.21810 0.17046 1.00 0.00 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 1313946 10 rs2271275
dbSNP Clinvar 		1230968 222.0 C T . 1/1 0 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%

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 1313946 10 rs1801252
dbSNP Clinvar 		115804036 122.0 A G . 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.17772 0.17770 0.13669 0.79 0.00 None None None None None None ADRB1|0.666700808|9.49%
View 1313946 10 rs1801253
dbSNP Clinvar 		115805056 222.0 G C . 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.70168 0.70170 0.30033 1.00 0.00 None None None None None 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 1313946 10 rs621375
dbSNP Clinvar 		116073801 225.0 T C . 0/1 0 SYNONYMOUS_CODING LOW None 0.35443 0.35440 0.34307 None None None None None None AFAP1L2|0.092781823|52.66%
View 1313946 10 . 116085784 217.0 CC CCCGC . 0/1 0 CODON_INSERTION MODERATE None None None None None None None AFAP1L2|0.092781823|52.66%
View 1313946 10 rs3813722
dbSNP Clinvar 		116073696 225.0 C T . 0/1 0 SYNONYMOUS_CODING LOW None 0.58486 0.58490 0.42019 None None None None None None AFAP1L2|0.092781823|52.66%
View 1313946 10 rs2286396
dbSNP Clinvar 		116060387 222.0 T C . 1/1 0 SYNONYMOUS_CODING LOW None 0.64157 0.64160 0.31855 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 1313946 10 rs201531094
dbSNP Clinvar 		51769579 136.0 G A . 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.01837 0.01837 0.17 0.07 None None None None None None AGAP6|0.003119632|88.45%

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 1313946 10 rs782795368
dbSNP Clinvar 		51225872 16.9 G T . 0/1 0 SYNONYMOUS_CODING LOW None None None None None None None None

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 1313946 10 rs10999147
dbSNP Clinvar 		71880858 225.0 A G . 0/1 0 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%
View 1313946 10 rs2394656
dbSNP Clinvar 		71876382 222.0 C T . 1/1 0 SYNONYMOUS_CODING LOW None 0.60064 0.60060 0.32316 None None None None None None AIFM2|0.142363482|44.1%

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 1313946 10 rs2854482
dbSNP Clinvar 		5043821 225.0 A T . 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.06490 0.06490 0.06997 0.79 0.99 None None None None None None AKR1C2|0.002182475|90.47%
View 1313946 10 rs3207909
dbSNP Clinvar 		5041398 56.0 T C . 0/1 0 SYNONYMOUS_CODING LOW 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 1313946 10 rs7741
dbSNP Clinvar 		5138607 225.0 G A . 0/1 0 SYNONYMOUS_CODING LOW None 0.21625 0.21630 0.34805 None None None None None None AKR1C3|0.002438134|89.81%
View 1313946 10 rs12529
dbSNP Clinvar 		5136651 225.0 C G . 0/1 0 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 1313946 10 rs4881396
dbSNP Clinvar 		5120157 222.0 G T . 1/1 0 None None None 0.87201 0.87200 0.71 0.00 None None None None None None AKR1C3|0.002438134|89.81%
View 1313946 10 rs12387
dbSNP Clinvar 		5139685 222.0 G A . 1/1 0 SYNONYMOUS_CODING LOW None 0.84824 0.84820 0.15693 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 1313946 10 rs4880718
dbSNP Clinvar 		5255025 222.0 A G . 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.99980 0.99980 1.00 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 1313946 10 rs2020172
dbSNP Clinvar 		5200861 225.0 C A . 0/1 0 None None None 0.17252 0.17250 0.01 1.00 None None None None None None None
View 1313946 10 rs1781935
dbSNP Clinvar 		5199934 225.0 G C . 0/1 0 None None None 0.60204 0.60200 0.01 0.84 None None None None None None None
View 1313946 10 rs7097295
dbSNP Clinvar 		5204928 225.0 C T . 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.18151 0.18150 0.31201 0.06 0.03 None None None None None None None
View 1313946 10 rs11253021
dbSNP Clinvar 		5203864 225.0 C T . 0/1 0 SYNONYMOUS_CODING LOW None 0.18131 0.18130 0.31209 None None None None None None None
View 1313946 10 rs1781931
dbSNP Clinvar 		5197881 212.0 A G . 0/1 0 None None None 0.20228 0.20230 None None None None None None None
View 1313946 10 rs2151896
dbSNP Clinvar 		5244441 201.0 A G . 0/1 0 None None None 0.56110 0.56110 None None None None None None AKR1C4|0.002829069|88.97%

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 1313946 10 rs7895609
dbSNP Clinvar 		115675025 225.0 G A . 0/1 0 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 1313946 10 rs2573326
dbSNP Clinvar 		82013146 225.0 T C . 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.59844 0.59840 1.00 0.00 None None None None None None None
View 1313946 10 rs12773664
dbSNP Clinvar 		82012954 225.0 A G . 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.40895 0.40890 0.80 0.07 None None None None None None None
View 1313946 10 rs1298908
dbSNP Clinvar 		82013134 225.0 C T . 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.58926 0.58930 0.24 0.00 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 1313946 10 rs4897740
dbSNP Clinvar 		133607947 188.0 T G . 0/1 0 SYNONYMOUS_CODING LOW None 0.58447 0.58450 None None None None None None None
View 1313946 10 rs4897781
dbSNP Clinvar 		133607904 112.0 G A . 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.58367 0.58370 0.00 None None None None None None None
View 1313946 10 rs4897782
dbSNP Clinvar 		133607937 178.0 G A . 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.54493 0.54490 0.00 None None None None None None None
View 1313946 10 rs4897741
dbSNP Clinvar 		133608210 225.0 A G . 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.58526 0.58530 0.00 None None None None None None None
View 1313946 10 rs4897783
dbSNP Clinvar 		133608237 225.0 G A . 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.50619 0.50620 0.83 None None None None None None None
View 1313946 10 rs4897742
dbSNP Clinvar 		133608291 190.0 T G . 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.50559 0.50560 0.01 None None None None None None None
View 1313946 10 rs4897743
dbSNP Clinvar 		133608292 194.0 T G . 0/1 0 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 1313946 10 rs34552044
dbSNP Clinvar 		61941147 225.0 A G . 0/1 0 SYNONYMOUS_CODING LOW None 0.01138 0.01138 0.03176 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 1313946 10 rs2296136
dbSNP Clinvar 		5929962 225.0 G C . 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.06050 0.06050 0.02645 0.01 1.00 None None None None None None ANKRD16|0.021840736|73.25%
View 1313946 10 rs631947
dbSNP Clinvar 		5925971 222.0 C A . 1/1 0 SYNONYMOUS_CODING LOW None 0.92252 0.92250 0.08435 None None None None None None ANKRD16|0.021840736|73.25%
View 1313946 10 rs3750656
dbSNP Clinvar 		5926034 128.0 T C . 0/1 0 SYNONYMOUS_CODING LOW None 0.06350 0.06350 0.02691 None None None None None None ANKRD16|0.021840736|73.25%
View 1313946 10 rs3750659
dbSNP Clinvar 		5931230 150.0 C T . 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.06050 0.06050 0.01854 0.13 0.01 None None None None None None ANKRD16|0.021840736|73.25%
View 1313946 10 rs1052420
dbSNP Clinvar 		5920121 222.0 T C . 1/1 0 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%

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 1313946 10 rs12221474
dbSNP Clinvar 		99332488 209.0 A C . 0/1 0 SYNONYMOUS_CODING LOW None 0.35344 0.35340 0.24835 None None None None None None ANKRD2|0.135833884|44.99%
View 1313946 10 rs7094973
dbSNP Clinvar 		99337572 183.0 G A . 0/1 0 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%

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 1313946 10 rs7893917
dbSNP Clinvar 		90585819 222.0 G A . 1/1 0 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 1313946 10 rs7897309
dbSNP Clinvar 		27389197 216.0 T C . 0/1 0 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%
View 1313946 10 rs2274741
dbSNP Clinvar 		27303605 225.0 A T . 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.31729 0.31730 0.17173 1.00 0.00 None None None None None None ANKRD26|0.003195391|88.32%
View 1313946 10 rs2297145
dbSNP Clinvar 		27381349 143.0 T C . 0/1 0 SYNONYMOUS_CODING LOW None 0.34665 0.34660 0.21011 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 1313946 10 rs1148259
dbSNP Clinvar 		37508450 222.0 A C . 1/1 0 SYNONYMOUS_CODING LOW None 0.53355 0.53350 0.40857 None None None None None None ANKRD30A|0.001436042|93.14%

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 1313946 10 rs1049550
dbSNP Clinvar 		81926702 225.0 G A . 0/1 0 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
 Ref
 Alt
 Filter Gen
 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1313946 10 rs2253301
dbSNP Clinvar 		99019177 222.0 A G . 1/1 0 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 1313946 10 rs3748222
dbSNP Clinvar 		24908686 203.0 T C . 0/1 0 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 1313946 10 rs3827681
dbSNP Clinvar 		49659637 222.0 T C . 1/1 0 None None None 0.50280 0.50280 0.00 None None None None None None ARHGAP22|0.033591165|67.92%
View 1313946 10 rs4080665
dbSNP Clinvar 		49687800 222.0 G A . 1/1 0 SYNONYMOUS_CODING LOW None 0.78934 0.78930 0.25035 None None None None None None ARHGAP22|0.033591165|67.92%
View 1313946 10 rs10776601
dbSNP Clinvar 		49659559 222.0 C T . 1/1 0 None None None 0.79193 0.79190 0.68 0.00 None None None None None None ARHGAP22|0.033591165|67.92%
View 1313946 10 rs3853761
dbSNP Clinvar 		49667795 222.0 T C . 1/1 0 SYNONYMOUS_CODING LOW None 0.90196 0.90200 0.10449 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 1313946 10 rs11817610
dbSNP Clinvar 		23297301 225.0 C T . 0/1 0 SPLICE_SITE_REGION+SYNONYMOUS_CODING LOW None 0.50000 0.50000 0.47916 None None None None None None ARMC3|0.037067211|66.75%
View 1313946 10 rs35798093
dbSNP Clinvar 		23250826 225.0 G A . 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.00679 0.00679 0.01292 0.01 1.00 None None None None None None ARMC3|0.037067211|66.75%
View 1313946 10 rs10828395
dbSNP Clinvar 		23297252 182.0 G A . 0/1 0 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%

ARMC4
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 1313946 10 rs7893462
dbSNP Clinvar 		28228865 225.0 A G . 0/1 0 SYNONYMOUS_CODING LOW None 0.53315 0.53310 0.49193 None None None None None None ARMC4|0.02617115|71.23%

ATE1
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 1313946 10 rs10749435
dbSNP Clinvar 		123673339 222.0 T C . 1/1 0 SYNONYMOUS_CODING LOW None 0.89916 0.89920 0.08473 None None None None None None ATE1|0.12976795|45.9%
View 1313946 10 rs4237536
dbSNP Clinvar 		123596254 222.0 T C . 1/1 0 SYNONYMOUS_CODING LOW None 0.88918 0.88920 0.09029 None None None None None None ATE1|0.12976795|45.9%
View 1313946 10 rs35350755
dbSNP Clinvar 		123549691 225.0 T G . 0/1 0 SYNONYMOUS_CODING LOW None 0.50160 0.50160 0.45648 None None None None None None ATE1|0.12976795|45.9%

ATRNL1
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 1313946 10 rs10885721
dbSNP Clinvar 		117228794 225.0 A G . 0/1 0 SYNONYMOUS_CODING LOW None 0.34445 0.34440 0.45552 None None None None None None ATRNL1|0.785284373|6.21%
View 1313946 10 rs1953758
dbSNP Clinvar 		117075175 222.0 G A . 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.96905 0.96900 0.03522 0.58 0.00 None None None None None None ATRNL1|0.785284373|6.21%

AVPI1
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 1313946 10 rs11556392
dbSNP Clinvar 		99439556 225.0 A C . 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.04772 0.04772 0.05720 0.02 1.00 None None None None None None AVPI1|0.049222593|62.9%
View 1313946 10 rs2275047
dbSNP Clinvar 		99439541 225.0 G C . 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.50819 0.50820 0.48086 0.54 0.00 None None None None None None AVPI1|0.049222593|62.9%

BEND7
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
 Ref
 Alt
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1313946 10 rs2251555
dbSNP Clinvar 		13534851 225.0 A G . 0/1 0 SYNONYMOUS_CODING LOW None 0.48063 0.48060 0.44671 None None None None None None BEND7|0.19658774|37.1%
View 1313946 10 rs2277222
dbSNP Clinvar 		13494594 225.0 T C . 0/1 0 SYNONYMOUS_CODING LOW None 0.35643 0.35640 0.27111 None None None None None None BEND7|0.19658774|37.1%
View 1313946 10 rs12415754
dbSNP Clinvar 		13481427 225.0 T A . 0/1 0 SYNONYMOUS_CODING LOW None 0.33307 0.33310 0.24942 None None None None None None BEND7|0.19658774|37.1%

BLNK
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 1313946 10 rs727852
dbSNP Clinvar 		97990583 222.0 A G . 1/1 0 SYNONYMOUS_CODING LOW None 0.46126 0.46130 0.44180 None None None None None None BLNK|0.20887815|35.7%

BMS1
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 1313946 10 rs787795
dbSNP Clinvar 		43292647 225.0 A G . 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.18051 0.18050 0.16404 0.16 0.11 None None None None None None BMS1|0.150591768|42.91%

BTBD16
Omim - GeneCards - NCBI
Options Individual Chr
 RsId
 Pos
 Qual
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 Read Depth Effect Impact Func Class 1kgenomes dbSNP ESP6500 Sift PP2 CADD M-CAP CLINVAR HI Score
View 1313946 10 rs3817281
dbSNP Clinvar 		124096035 67.0 T C . 0/1 0 SYNONYMOUS_CODING LOW None 0.45927 0.45930 0.33192 None None None None None None BTBD16|0.010433592|80.54%
View 1313946 10 rs1048347
dbSNP Clinvar 		124096061 129.0 A C . 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.45927 0.45930 0.33438 1.00 0.00 None None None None None None BTBD16|0.010433592|80.54%
View 1313946 10 rs1129973
dbSNP Clinvar 		124096041 94.0 T C . 0/1 0 SYNONYMOUS_CODING LOW None 0.45967 0.45970 0.33515 None None None None None None BTBD16|0.010433592|80.54%
View 1313946 10 rs2421013
dbSNP Clinvar 		124089036 222.0 G A . 1/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.61601 0.61600 0.45710 1.00 0.00 None None None None None None BTBD16|0.010433592|80.54%
View 1313946 10 rs986178
dbSNP Clinvar 		124089075 225.0 G A . 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.09585 0.09585 0.09296 0.01 0.74 None None None None None None BTBD16|0.010433592|80.54%

BTRC
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 1313946 10 rs4151060
dbSNP Clinvar 		103298099 225.0 G T . 0/1 0 NON_SYNONYMOUS_CODING MODERATE None 0.01378 0.01378 0.03545 0.31 0.00 None None None None None None BTRC|0.99074178|1.05%

C10orf10
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 1313946 10 rs3740094
dbSNP Clinvar 		45473317 225.0 C T . 0/1 0 SYNONYMOUS_CODING LOW None 0.14756 0.14760 0.12060 None None None None None None RASSF4|0.051786386|62.12%,C10orf10|0.004454479|86.44%

C10orf107
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 1313946 10 rs1992625
dbSNP Clinvar 		63520698 222.0 T C . 1/1 0 SYNONYMOUS_CODING LOW None 0.87201 0.87200 0.18156 None None None None None None C10orf107|0.277213376|29.34%