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
RS2539533247 GNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D
RS2539534664 TBK1 Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
RS2539534855 TBK1 Health Risk Likely pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
RS2539537276 TBK1 Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
RS2539537429 TBK1 Health Risk Likely pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
RS2539537514 TBK1 Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
RS2539537579 TBK1 Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
RS2539538016 BRSK2 Health Risk Likely pathogenic —
RS2539542110 GNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D
RS2539547016 BRSK2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2539553454 DPM2 Health Risk Likely pathogenic Congenital muscular dystrophy with intellectual disability and severe epilepsy, Congenital muscular dystrophy with intellectual disability and severe epilepsy
RS2539556000 DPM2 Health Risk Pathogenic Congenital muscular dystrophy with intellectual disability and severe epilepsy, Congenital muscular dystrophy with intellectual disability and severe epilepsy
RS2539558352 DPM2 Health Risk Pathogenic Congenital muscular dystrophy with intellectual disability and severe epilepsy, Congenital muscular dystrophy with intellectual disability and severe epilepsy
RS2539562654 EXT2 Health Risk Likely pathogenic EXT2-related disorder, EXT2-related disorder
RS2539563039 EXT2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2539563253 EXT2 Health Risk Pathogenic Exostoses, multiple
RS2539563299 EXT2 Health Risk Pathogenic Exostoses, multiple
RS2539563311 EXT2 Health Risk Pathogenic Exostoses, multiple
RS2539563601 EXT2 Health Risk Pathogenic Exostoses, multiple
RS2539571683 BMPR1A Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2539571913 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS2539572767 BMPR1A Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2539572909 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2539573512 BMPR1A Health Risk Likely pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2539574006 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2539574831 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2539574847 AMPD3 Health Risk Likely pathogenic Erythrocyte AMP deaminase deficiency, Erythrocyte AMP deaminase deficiency
RS2539574977 BMPR1A Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS2539577315 EXT2 Health Risk Pathogenic Exostoses, multiple
RS2539577681 EXT2 Health Risk Pathogenic Exostoses, multiple
RS2539590504 CACNA1B Health Risk Pathogenic —
RS2539591419 C1S Health Risk Likely pathogenic Ehlers-Danlos syndrome, periodontal type 2
RS2539593127 C1S Health Risk Pathogenic —
RS2539593557 C1S Health Risk Pathogenic —
RS2539594071 C1S Health Risk Pathogenic —
RS2539599999 C1S Health Risk Pathogenic —
RS2539600093 CDK5RAP2 Health Risk Likely pathogenic Microcephaly 3, primary
RS2539601537 C1S Health Risk Pathogenic —
RS2539602354 BMPR1A Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2539602383 BMPR1A Health Risk Pathogenic/Likely pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2539602448 C1S Health Risk Pathogenic —
RS2539602631 BMPR1A Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2539602666 BMPR1A Health Risk Likely pathogenic Polyposis syndrome, hereditary mixed
RS2539603429 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2539603566 C1S Health Risk Likely pathogenic C1S-related disorder, C1S-related disorder
RS2539603621 BMPR1A Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS2539603948 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS2539604404 BMPR1A Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2539604557 C1S Health Risk Likely pathogenic —
RS2539605284 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2539606922 C1S Health Risk Pathogenic —
RS2539607951 C1S Health Risk Pathogenic —
RS2539608457 C1S Health Risk Likely pathogenic Complement component C1s deficiency, Complement component C1s deficiency
RS2539609617 CACNA1B Health Risk Pathogenic —
RS2539617330 BMPR1A Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2539618159 BMPR1A Health Risk Likely pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2539619596 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2539619684 BMPR1A Health Risk Likely pathogenic Polyposis syndrome, hereditary mixed
RS2539620018 CDK5RAP2 Health Risk Pathogenic —
RS2539620157 BMPR1A Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2539620708 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2539620949 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2539621087 BMPR1A Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2539621197 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2539623227 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2539623320 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2539623339 BMPR1A Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2539623369 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2539627558 CDK5RAP2 Health Risk Likely pathogenic Microcephaly 3, primary
RS2539627983 TRAPPC9 Health Risk Likely pathogenic Intellectual disability, autosomal recessive 13
RS2539628652 TRAPPC9 Health Risk Likely pathogenic Intellectual disability, autosomal recessive 13
RS2539628994 BMPR1A Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2539633924 RNH1 Health Risk risk factor Encephalitis, acute
RS2539635232 BMPR1A Health Risk Conflicting classifications of pathogenicity Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS2539635370 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2539636034 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2539636515 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2539636676 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2539637091 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2539637246 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2539638420 BMPR1A Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS2539639191 STXBP1 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 4
RS2539639339 STXBP1 Health Risk Likely pathogenic —
RS2539639536 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS2539643473 IL2RA Health Risk Likely pathogenic Immunodeficiency due to CD25 deficiency, Immunodeficiency due to CD25 deficiency
RS2539647790 BMPR1A Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2539648615 BMPR1A Health Risk Pathogenic/Likely pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2539648971 BMPR1A Health Risk Likely pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2539649661 IL2RA Health Risk Pathogenic Immunodeficiency due to CD25 deficiency, Immunodeficiency due to CD25 deficiency
RS2539650152 BMPR1A Health Risk Likely pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2539656282 FKTN Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS2539657265 FKTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability)
RS2539657496 FKTN Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS2539657876 FKTN Health Risk Likely pathogenic See cases, See cases
RS2539659214 FKTN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1X, Walker-Warburg congenital muscular dystrophy
RS2539664619 EXT2 Health Risk Pathogenic Exostoses, multiple
RS2539664719 EXT2 Health Risk Pathogenic Exostoses, multiple
RS2539665065 EXT2 Health Risk Pathogenic Exostoses, multiple
RS2539679682 PCDH15 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS2539682034 PCDH15 Health Risk Pathogenic —
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