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
RS2137552117 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2137552236 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2137552415 SETD1B Health Risk Pathogenic Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay
RS2137553018 SETD1B Health Risk Pathogenic Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay
RS2137553245 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2137553918 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2137555065 BRCA2 Health Risk Likely pathogenic Malignant tumor of breast, Malignant tumor of breast
RS2137555167 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137555368 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS2137555513 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137555713 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137555835 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Breast-ovarian cancer
RS2137556120 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2137556423 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137556511 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2137556567 BRCA2 Health Risk Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137556981 BRCA2 Health Risk Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137557666 BRCA2 Health Risk Pathogenic Malignant tumor of breast, Hereditary cancer-predisposing syndrome
RS2137557686 BRCA2 Health Risk Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137557757 BRCA2 Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2137557832 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2137557859 SACS Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS2137558442 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2137558752 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2137558833 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2137559913 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2137561134 SACS Health Risk Pathogenic Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS2137561595 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2137561621 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS2137561628 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2137561652 BRCA2 Health Risk Pathogenic —
RS2137561690 BRCA2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2137561711 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS2137561854 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2137561906 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2137562191 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137562247 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS2137562363 BRCA2 Health Risk Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137562694 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2137562799 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137563070 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137563478 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2137564626 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2137565163 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2137565671 SACS Health Risk Conflicting classifications of pathogenicity Hereditary spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS2137566018 SACS Health Risk Pathogenic —
RS2137566082 BRCA2 Health Risk Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137566100 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137566201 BRCA2 Health Risk Pathogenic Breast carcinoma, Breast carcinoma
RS2137566280 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2137566623 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2137566624 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2137567005 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2137567117 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137567147 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137567207 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2137567485 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137567531 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137567568 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137567996 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2137568213 SETD1B Health Risk Likely pathogenic —
RS2137569225 SACS Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS2137569412 SACS Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS2137570842 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2137572074 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2137572221 SETD1B Health Risk Pathogenic Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay
RS2137572889 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2137573025 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2137573354 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2137574344 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2137575733 CEP83 Health Risk Pathogenic Nephronophthisis 18, Nephronophthisis 18
RS2137575812 ANO6 Health Risk Pathogenic SCOTT SYNDROME, SCOTT SYNDROME
RS2137576349 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137576469 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Gastric cancer
RS2137577004 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137577015 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2137577202 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2137577279 BRCA2 Health Risk Likely pathogenic Prostate cancer, Prostate cancer
RS2137577427 SETD1B Health Risk Pathogenic —
RS2137577492 BRCA2 Health Risk Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137577594 BRCA2 Health Risk Likely pathogenic Hereditary breast ovarian cancer syndrome, Familial cancer of breast
RS2137577673 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2137577775 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS2137577850 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137577856 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS2137577962 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2137577993 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137578021 SETD1B Health Risk Pathogenic/Likely pathogenic Intellectual developmental disorder with seizures and language delay, Intellectual developmental disorder with seizures and language delay
RS2137578916 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2137579387 SETD1B Health Risk Pathogenic —
RS2137579544 SETD1B Health Risk Pathogenic —
RS2137579584 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS2137579611 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Inherited prostate cancer
RS2137579850 BRCA2 Health Risk Pathogenic Gastric cancer, Gastric cancer
RS2137579971 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS2137580025 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS2137580127 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS2137580189 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS2137580251 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS2137580749 BRCA2 Health Risk Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
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