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
RS2539457976 SLC27A4 Health Risk Pathogenic —
RS2539458046 SLC27A4 Health Risk Pathogenic —
RS2539458063 SLC27A4 Health Risk Likely pathogenic —
RS2539458072 SLC27A4 Health Risk Pathogenic Ichthyosis prematurity syndrome, Ichthyosis prematurity syndrome
RS2539458093 SLC27A4 Health Risk Likely pathogenic —
RS2539458101 SLC27A4 Health Risk Likely pathogenic —
RS2539458582 CACNA1B Health Risk Likely pathogenic —
RS2539458600 CACNA1B Health Risk Pathogenic —
RS2539461916 SLC27A4 Health Risk Pathogenic —
RS2539462332 SLC27A4 Health Risk Likely pathogenic —
RS2539463083 SLC27A4 Health Risk Pathogenic —
RS2539464264 LRSAM1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS2539464527 LRSAM1 Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P-AR
RS2539464661 LRSAM1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS2539465699 SLC27A4 Health Risk Pathogenic —
RS2539465763 SLC27A4 Health Risk Pathogenic —
RS2539466370 TRAPPC9 Health Risk Pathogenic —
RS2539470565 LRSAM1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Charcot-Marie-Tooth disease axonal type 2P
RS2539470731 LRSAM1 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS2539470786 LRSAM1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS2539470853 LRSAM1 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS2539473873 POMT1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS2539474347 PCDH15 Health Risk Pathogenic —
RS2539474441 PCDH15 Health Risk Pathogenic —
RS2539474836 POMT1 Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS2539476089 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1D, Usher syndrome type 1D
RS2539476287 POMT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
RS2539476380 POMT1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B1
RS2539476594 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1D, Usher syndrome type 1D
RS2539476696 TBK1 Health Risk Likely pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
RS2539477272 POMT1 Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2K
RS2539477388 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1D, Usher syndrome type 1D
RS2539477949 POMT1 Health Risk Pathogenic/Likely pathogenic Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS2539478095 POMT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
RS2539482429 TBK1 Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
RS2539487706 SMARCD1 Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS2539489004 TBK1 Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
RS2539489295 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2539489532 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2539490085 BMPR1A Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS2539490128 FKTN Health Risk Likely pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS2539491393 BMPR1A Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS2539491669 BMPR1A Health Risk Likely pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2539492420 FREM1 Health Risk Likely pathogenic FREM1-related disorder, BNAR syndrome
RS2539493276 BMPR1A Health Risk Likely pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2539493292 BMPR1A Health Risk Likely pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2539493394 TBK1 Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
RS2539494403 BRSK2 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2539494607 FKTN Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS2539494660 FKTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability)
RS2539494661 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2539494737 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2539495484 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2539495592 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2539495737 FKTN Health Risk Likely pathogenic Dilated cardiomyopathy 1X, Dilated cardiomyopathy 1X
RS2539496182 BMPR1A Health Risk Likely pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2539503647 TBK1 Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
RS2539503808 GNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D
RS2539505244 GNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D
RS2539505252 GNS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-D
RS2539505307 GNS Health Risk Likely pathogenic GNS-related disorder, GNS-related disorder
RS2539505509 TRAPPC9 Health Risk Pathogenic —
RS2539507686 PCDH15 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS2539507853 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1D, Usher syndrome type 1D
RS2539508443 POMT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
RS2539508466 PCDH15 Health Risk Pathogenic —
RS2539510522 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1D, Usher syndrome type 1D
RS2539510674 GNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-D
RS2539510842 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1D, Usher syndrome type 1D
RS2539510971 TBK1 Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
RS2539511024 TBK1 Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
RS2539511036 TBK1 Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
RS2539511295 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1D, Usher syndrome type 1F
RS2539514312 POMT1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2K, Walker-Warburg congenital muscular dystrophy
RS2539514362 POMT1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
RS2539514504 EXT2 Health Risk Pathogenic Exostoses, multiple
RS2539514590 EXT2 Health Risk Likely pathogenic —
RS2539515955 EXT2 Health Risk Pathogenic Exostoses, multiple
RS2539516907 EXT2 Health Risk Pathogenic Exostoses, multiple
RS2539517042 EXT2 Health Risk Likely pathogenic Exostoses, multiple
RS2539517747 GNS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-D
RS2539517850 GNS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-D
RS2539519111 TBK1 Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
RS2539519779 GNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D
RS2539519835 GNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D
RS2539519932 GNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D
RS2539520026 TBK1 Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
RS2539521823 EXT2 Health Risk Pathogenic Exostoses, multiple
RS2539523565 GNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-D
RS2539523681 GNS Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-D
RS2539523784 TBK1 Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
RS2539523804 GNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-D
RS2539524933 GNS Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-D
RS2539525839 ZMYND11 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2539525878 TBK1 Health Risk Likely pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, Frontotemporal dementia and/or amyotrophic lateral sclerosis 4
RS2539527738 GNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D
RS2539527781 GNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D
RS2539527952 GNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D
RS2539528031 GNS Health Risk Pathogenic Mucopolysaccharidosis, MPS-III-D
RS2539528280 GPD1 Health Risk Pathogenic Transient infantile hypertriglyceridemia and hepatosteatosis, Transient infantile hypertriglyceridemia and hepatosteatosis
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