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
RS2133035336 TNNI2 Health Risk Likely pathogenic —
RS2133036598 WT1 Health Risk Likely pathogenic Drash syndrome, Frasier syndrome
RS2133037431 WT1 Health Risk Pathogenic Wilms tumor 1, 11p partial monosomy syndrome
RS2133037467 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2133038541 PCDH15 Health Risk Pathogenic —
RS2133039624 HNRNPK Health Risk Likely pathogenic Generalized hypotonia, Generalized hypotonia
RS2133039737 HNRNPK Health Risk Pathogenic —
RS2133041569 GNE Health Risk Pathogenic Sialuria, GNE myopathy
RS2133042086 HNRNPK Health Risk Likely pathogenic Au-Kline syndrome, Au-Kline syndrome
RS2133042191 GNE Health Risk Pathogenic Sialuria, GNE myopathy
RS2133043288 PSAP Health Risk Likely pathogenic Sphingolipid activator protein 1 deficiency, Sphingolipid activator protein 1 deficiency
RS2133043442 PSAP Health Risk Pathogenic Sphingolipid activator protein 1 deficiency, Sphingolipid activator protein 1 deficiency
RS2133047947 PSAP Health Risk Likely pathogenic Sphingolipid activator protein 1 deficiency, Melanoma
RS2133048124 PSAP Health Risk Pathogenic Sphingolipid activator protein 1 deficiency, Sphingolipid activator protein 1 deficiency
RS2133049150 PSAP Health Risk Pathogenic Krabbe disease due to saposin A deficiency, Krabbe disease due to saposin A deficiency
RS2133049724 GNE Health Risk Pathogenic Sialuria, GNE myopathy
RS2133053013 PSAP Health Risk Pathogenic Sphingolipid activator protein 1 deficiency, Sphingolipid activator protein 1 deficiency
RS2133053107 PSAP Health Risk Likely pathogenic Sphingolipid activator protein 1 deficiency, Sphingolipid activator protein 1 deficiency
RS2133059770 PCDH15 Health Risk Likely pathogenic —
RS2133067872 GNE Health Risk Likely pathogenic Sialuria, GNE myopathy
RS2133068002 GNE Health Risk Pathogenic Sialuria, GNE myopathy
RS2133068813 GNE Health Risk Conflicting classifications of pathogenicity GNE myopathy, Sialuria
RS2133072022 WT1 Health Risk Pathogenic Drash syndrome, Frasier syndrome
RS2133072543 WT1 Health Risk Pathogenic Wilms tumor 1, Drash syndrome
RS2133073037 WT1 Health Risk Pathogenic Frasier syndrome, Wilms tumor 1
RS2133074888 WT1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2133075412 WT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Drash syndrome
RS2133076941 PUS7 Health Risk Likely pathogenic Intellectual developmental disorder with abnormal behavior, microcephaly
RS2133078032 GNE Health Risk Pathogenic Sialuria, GNE myopathy
RS2133079257 ERCC6L2 Health Risk Likely pathogenic Thrombocytopenia, Thrombocytopenia
RS2133080742 ERCC6L2 Health Risk Likely pathogenic Bone marrow hypocellularity, Bone marrow hypocellularity
RS2133081935 ERCC6L2 Health Risk Likely pathogenic Bone marrow hypocellularity, Bone marrow hypocellularity
RS2133083597 STIM1 Health Risk Likely pathogenic Stormorken syndrome, Myopathy with tubular aggregates
RS2133098428 BRSK2 Health Risk Likely pathogenic —
RS2133101249 WT1 Health Risk Pathogenic Drash syndrome, Frasier syndrome
RS2133102338 FXN Health Risk Likely pathogenic Friedreich ataxia 1, Friedreich ataxia 1
RS2133102575 WT1 Health Risk Pathogenic Wilms tumor 1, Wilms tumor 1
RS2133103216 WT1 Health Risk Pathogenic/Likely pathogenic Frasier syndrome, Wilms tumor 1
RS2133104077 WT1 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, 11p partial monosomy syndrome
RS2133104138 PLCE1 Health Risk Pathogenic Nephrotic syndrome, type 3
RS2133104248 WT1 Health Risk Pathogenic Drash syndrome, Frasier syndrome
RS2133104877 WT1 Health Risk Pathogenic Drash syndrome, Wilms tumor 1
RS2133105444 WT1 Health Risk Pathogenic Drash syndrome, Frasier syndrome
RS2133106426 WT1 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, 11p partial monosomy syndrome
RS2133106593 WT1 Health Risk Conflicting classifications of pathogenicity Wilms tumor 1, 11p partial monosomy syndrome
RS2133108011 WT1 Health Risk Conflicting classifications of pathogenicity Frasier syndrome, Wilms tumor 1
RS2133111012 GNE Health Risk Pathogenic Sialuria, GNE myopathy
RS2133113896 GNE Health Risk Pathogenic GNE myopathy, Sialuria
RS2133114222 GNE Health Risk Pathogenic Sialuria, GNE myopathy
RS2133120033 BRSK2 Health Risk Pathogenic/Likely pathogenic BRSK2-related disorder, BRSK2-related disorder
RS2133124899 ABCC2 Health Risk Likely pathogenic Dubin-Johnson syndrome, Dubin-Johnson syndrome
RS2133126724 GNE Health Risk Pathogenic GNE myopathy, Sialuria
RS2133127091 PLCE1 Health Risk Likely pathogenic Nephrotic syndrome, type 3
RS2133127123 PLCE1 Health Risk Likely pathogenic Nephrotic syndrome, Nephrotic syndrome
RS2133130286 WHRN Health Risk Pathogenic Usher syndrome type 2D, Usher syndrome type 2D
RS2133132945 PUS7 Health Risk Pathogenic —
RS2133152290 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS2133152660 EHMT1 Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 1, Kleefstra syndrome 1
RS2133154359 EHMT1 Health Risk Likely pathogenic Kleefstra syndrome, Kleefstra syndrome
RS2133160637 FKTN Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS2133163213 FKTN Health Risk Pathogenic/Likely pathogenic Walker-Warburg congenital muscular dystrophy, Dilated cardiomyopathy 1X
RS2133168246 EXOSC1 Health Risk Pathogenic Pontocerebellar hypoplasia, type 1F
RS2133181057 CAT Health Risk Pathogenic Acatalasia, Acatalasia
RS2133193530 LAMC3 Health Risk Pathogenic —
RS2133193948 LAMC3 Health Risk Pathogenic Occipital pachygyria and polymicrogyria, Occipital pachygyria and polymicrogyria
RS2133202137 FREM1 Health Risk Likely pathogenic —
RS2133202969 ERCC6L2 Health Risk Likely pathogenic —
RS2133203419 ERCC6L2 Health Risk Pathogenic —
RS2133209411 FKTN Health Risk Likely pathogenic Dilated cardiomyopathy 1X, Dilated cardiomyopathy 1X
RS2133224258 STIM1 Health Risk Pathogenic Stormorken syndrome, Combined immunodeficiency due to STIM1 deficiency
RS2133226731 STIM1 Health Risk Likely pathogenic Myopathy, tubular aggregate
RS2133226986 NEUROG3 Health Risk Likely pathogenic Congenital malabsorptive diarrhea 4, Congenital malabsorptive diarrhea 4
RS2133227010 NEUROG3 Health Risk Pathogenic Congenital malabsorptive diarrhea 4, Congenital malabsorptive diarrhea 4
RS2133227148 NEUROG3 Health Risk Pathogenic Congenital malabsorptive diarrhea 4, Congenital malabsorptive diarrhea 4
RS2133237860 ACTA2 Health Risk Likely pathogenic —
RS2133254783 PUS7 Health Risk Pathogenic/Likely pathogenic Intellectual developmental disorder with abnormal behavior, microcephaly
RS2133256226 ACTA2 Health Risk Pathogenic Descending aortic dissection, Descending aortic dissection
RS2133256406 ACTA2 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 6
RS2133261250 ACTA2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Aortic aneurysm
RS2133261286 ACTA2 Health Risk Likely pathogenic Aortic aneurysm, familial thoracic 6
RS2133261333 ACTA2 Health Risk Conflicting classifications of pathogenicity Aortic aneurysm, familial thoracic 6
RS2133270221 ACTA2 Health Risk Likely pathogenic Aortic aneurysm, familial thoracic 6
RS2133270267 TJP2 Health Risk Pathogenic —
RS2133273980 ACTA2 Health Risk Likely pathogenic Aortic aneurysm, familial thoracic 6
RS2133277436 CACNA1B Health Risk Pathogenic —
RS2133281256 LAMC3 Health Risk Pathogenic —
RS2133292794 RAG1 Health Risk Pathogenic/Likely pathogenic —
RS2133294899 RAG1 Health Risk Likely pathogenic RAG1-related disorder, RAG1-related disorder
RS2133295344 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2133296385 RAG1 Health Risk Pathogenic Severe combined immunodeficiency, autosomal recessive
RS2133296872 RAG1 Health Risk Pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS2133297434 RAG1 Health Risk Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS2133297485 RAG1 Health Risk Likely pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS2133297611 RAG1 Health Risk Pathogenic Combined immunodeficiency with skin granulomas, Severe combined immunodeficiency
RS2133297645 BRSK2 Health Risk Likely pathogenic —
RS2133298263 RAG1 Health Risk Pathogenic/Likely pathogenic Histiocytic medullary reticulosis, Combined immunodeficiency due to partial RAG1 deficiency
RS2133299037 LAMC3 Health Risk Pathogenic —
RS2133311139 RAG2 Health Risk Pathogenic/Likely pathogenic Severe combined immunodeficiency, autosomal recessive
RS2133312126 LAMC3 Health Risk Pathogenic —
RS2133312466 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
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