SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS748321474 GLI1 Health Risk Pathogenic Polydactyly, postaxial
RS748322684 C14orf39 Health Risk Likely pathogenic Spermatogenic failure 52, Premature ovarian failure 18
RS748323629 UBR4 Health Risk Likely pathogenic Short stature, Short stature
RS748323823 DES Health Risk Likely pathogenic Desmin-related myofibrillar myopathy, Cardiovascular phenotype
RS748324481 FMO3 Health Risk Pathogenic/Likely pathogenic Trimethylaminuria, Trimethylaminuria
RS748325646 ZIC3 Health Risk Conflicting classifications of pathogenicity Heterotaxy, visceral
RS748325824 CYP27A1 Health Risk Conflicting classifications of pathogenicity Cholestanol storage disease, Cholestanol storage disease
RS748326281 SYNE4 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 76, Ovarian serous cystadenocarcinoma
RS748326514 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS748326759 SACS Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Inborn genetic diseases
RS748327110 COL6A1 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 1A, Inborn genetic diseases
RS748327743 FBN1 Health Risk Conflicting classifications of pathogenicity Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS748329498 ACADVL Health Risk Conflicting classifications of pathogenicity Very long chain acyl-CoA dehydrogenase deficiency, Clear cell carcinoma of kidney
RS74832989 HIBCH Health Risk Pathogenic/Likely pathogenic 3-hydroxyisobutyryl-CoA hydrolase deficiency, 3-hydroxyisobutyryl-CoA hydrolase deficiency
RS748330320 CIITA Health Risk Conflicting classifications of pathogenicity MHC class II deficiency, CIITA-related disorder
RS748330438 MUTYH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS748331529 BLM Health Risk Conflicting classifications of pathogenicity Bloom syndrome, Hereditary cancer-predisposing syndrome
RS748333147 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS748333323 HOXB13 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Prostate cancer
RS748333558 SYNGAP1 Health Risk Conflicting classifications of pathogenicity Global developmental delay, Intellectual disability
RS748334413 GYS1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to muscle and heart glycogen synthase deficiency, Glycogen storage disease due to muscle and heart glycogen synthase deficiency
RS748335175 RARS2 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 6, Pontocerebellar hypoplasia type 6
RS748335411 LONP1 Health Risk Conflicting classifications of pathogenicity Neurodevelopmental disorder, Neurodevelopmental disorder
RS748335429 RBM20 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1DD
RS748335793 TRAF3IP1 Health Risk Pathogenic —
RS748335883 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS748335936 ALK Health Risk Conflicting classifications of pathogenicity Neuroblastoma, susceptibility to
RS748336996 KMT2B Health Risk Conflicting classifications of pathogenicity Dystonia 28, childhood-onset
RS748337315 FANCE Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group E, Fanconi anemia complementation group E
RS748337491 SON Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS748337823 PAH Health Risk Pathogenic Phenylketonuria, Phenylketonuria
RS748337915 SUMF1 Health Risk Pathogenic Multiple sulfatase deficiency, Multiple sulfatase deficiency
RS748340868 ADAMTS2 Health Risk Pathogenic Ehlers-Danlos syndrome, dermatosparaxis type
RS748342368 FANCC Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group C
RS748342378 APC Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS748343919 TMEM43 Health Risk Conflicting classifications of pathogenicity Arrhythmogenic right ventricular dysplasia 5, Cardiomyopathy
RS748343941 HFM1 Health Risk Pathogenic Spermatogenic failure 4, Spermatogenic failure 4
RS748345018 TPP1 Health Risk Conflicting classifications of pathogenicity Neuronal ceroid lipofuscinosis 2, Inborn genetic diseases
RS748345425 DRC1 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS748345448 COL5A1 Health Risk Conflicting classifications of pathogenicity Ehlers-Danlos syndrome, classic type
RS748345527 GLB1 Health Risk Pathogenic/Likely pathogenic GM1 gangliosidosis, Mucopolysaccharidosis
RS748345928 ELANE Health Risk Conflicting classifications of pathogenicity Neutropenia, severe congenital
RS748348196 ACE Health Risk Pathogenic —
RS748349854 IARS1 Health Risk Likely pathogenic —
RS748350251 RFT1 Health Risk Conflicting classifications of pathogenicity RFT1-congenital disorder of glycosylation, RFT1-congenital disorder of glycosylation
RS748350342 KANSL1 Health Risk Conflicting classifications of pathogenicity Koolen-de Vries syndrome, Koolen-de Vries syndrome
RS748351421 BEST1 Health Risk Pathogenic Vitelliform macular dystrophy 2, Vitelliform macular dystrophy 2
RS748352319 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS748353137 NGLY1 Health Risk Pathogenic Congenital disorder of deglycosylation, Congenital disorder of deglycosylation
RS748353498 WFS1 Health Risk Conflicting classifications of pathogenicity Wolfram syndrome 1, Cataract 41
RS748354081 CNGB3 Health Risk Conflicting classifications of pathogenicity —
RS748354087 ZEB2 Health Risk Conflicting classifications of pathogenicity Mowat-Wilson syndrome, Inborn genetic diseases
RS748354630 IL21R Health Risk Conflicting classifications of pathogenicity Cryptosporidiosis-chronic cholangitis-liver disease syndrome, Inborn genetic diseases
RS748354696 GALE Health Risk Conflicting classifications of pathogenicity UDPglucose-4-epimerase deficiency, UDPglucose-4-epimerase deficiency
RS748356668 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS748357067 ABCA4 Health Risk Pathogenic Inborn genetic diseases, Retinal dystrophy
RS748358450 NEB Health Risk Pathogenic/Likely pathogenic Nemaline myopathy, Nemaline myopathy 2
RS748358807 MMUT Health Risk Likely pathogenic Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency, Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency
RS748362676 MUTYH Health Risk Conflicting classifications of pathogenicity Familial adenomatous polyposis 2, Hereditary cancer-predisposing syndrome
RS748362724 SLC4A11 Health Risk Conflicting classifications of pathogenicity Corneal dystrophy-perceptive deafness syndrome, Corneal dystrophy-perceptive deafness syndrome
RS748363079 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS748363083 G6PC1 Health Risk Pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS748363549 CLCN4 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS748363597 CHD7 Health Risk Conflicting classifications of pathogenicity CHARGE syndrome, Inborn genetic diseases
RS748363919 FLCN Health Risk Conflicting classifications of pathogenicity Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS748364235 NACC1 Health Risk Conflicting classifications of pathogenicity —
RS748365248 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS748369241 MEN1 Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 1
RS748369265 TTN Health Risk Conflicting classifications of pathogenicity Primary dilated cardiomyopathy, Dilated cardiomyopathy 1G
RS748369269 SCN5A Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS748369458 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS748370008 LCA5 Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 5, Retinal dystrophy
RS748371566 SIK1 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 30
RS748371797 POLE Health Risk Pathogenic —
RS748373029 INF2 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS748373099 NBN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Microcephaly
RS748373933 CHMP1A Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 8, Inborn genetic diseases
RS748374119 FANCI Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS748374528 CTH Health Risk Pathogenic Cystathioninuria, Cystathioninuria
RS748375168 DNAH8 Health Risk Conflicting classifications of pathogenicity Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS748375797 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS748379243 ERCC8 Health Risk Pathogenic Cockayne syndrome type 1, Cockayne syndrome type 1
RS748379353 LAMC2 Health Risk Likely pathogenic —
RS748379474 SCN1B Health Risk Conflicting classifications of pathogenicity Brugada syndrome 5, Cardiovascular phenotype
RS748380897 ATM Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Ataxia-telangiectasia syndrome
RS748382770 TTN Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS748382994 ACSF3 Health Risk Pathogenic/Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS748383126 ASPM Health Risk Conflicting classifications of pathogenicity —
RS748383863 USH2A Health Risk Pathogenic —
RS748384232 JAG1 Health Risk Conflicting classifications of pathogenicity Deafness, congenital heart defects
RS748384890 SPTLC1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 1, Inborn genetic diseases
RS748385144 LIG4 Health Risk Conflicting classifications of pathogenicity Severe combined immunodeficiency due to DCLRE1C deficiency, DNA ligase IV deficiency
RS748385953 DDHD1 Health Risk Pathogenic Hereditary spastic paraplegia 28, Hereditary spastic paraplegia 28
RS748387885 HGSNAT Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-C
RS748389002 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS748390169 HCN4 Health Risk Conflicting classifications of pathogenicity Brugada syndrome 8, Brugada syndrome 8
RS748391176 COL11A1 Health Risk Conflicting classifications of pathogenicity —
RS748393033 CSRP3 Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1M, Hypertrophic cardiomyopathy 12
RS748393505 SETBP1 Health Risk Likely pathogenic Inborn genetic diseases, Intellectual disability
RS748393514 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
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