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
RS2144361735 LOXHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS2144363211 TEX14 Health Risk Pathogenic Non-obstructive azoospermia, Non-obstructive azoospermia
RS2144367372 TEX14 Health Risk Pathogenic Non-obstructive azoospermia, Non-obstructive azoospermia
RS2144370278 LOXHD1 Health Risk Pathogenic —
RS2144371589 LOXHD1 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS2144372568 SMAD2 Health Risk Likely pathogenic —
RS2144373131 SMAD2 Health Risk Pathogenic/Likely pathogenic Loeys-Dietz syndrome 6, SMAD2-related disorder
RS2144376621 LOXHD1 Health Risk Likely pathogenic —
RS2144376746 KCNJ2 Health Risk Pathogenic Andersen Tawil syndrome, Andersen Tawil syndrome
RS2144377213 KCNJ2 Health Risk Pathogenic Andersen Tawil syndrome, Short QT syndrome type 3
RS2144377429 KCNJ2 Health Risk Conflicting classifications of pathogenicity Andersen Tawil syndrome, Short QT syndrome type 3
RS2144378963 SMAD2 Health Risk Likely pathogenic —
RS2144379000 SMAD2 Health Risk Pathogenic —
RS2144380398 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2144381014 BRIP1 Health Risk Pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS2144381202 BRIP1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2144383876 MYO5B Health Risk Pathogenic Cholestasis, progressive familial intrahepatic
RS2144384208 BRIP1 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2144384449 BRIP1 Health Risk Likely pathogenic Fanconi anemia complementation group J, Familial cancer of breast
RS2144384520 BRIP1 Health Risk Conflicting classifications of pathogenicity Fanconi anemia complementation group J, Familial cancer of breast
RS2144387739 MALT1 Health Risk Pathogenic Combined immunodeficiency due to MALT1 deficiency, Combined immunodeficiency due to MALT1 deficiency
RS2144390075 MYO5B Health Risk Likely pathogenic Congenital microvillous atrophy, Congenital microvillous atrophy
RS2144391343 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS2144399576 LOXHD1 Health Risk Pathogenic —
RS2144400284 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2144400328 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS2144400967 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2144401070 LOXHD1 Health Risk Pathogenic —
RS2144401076 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Neoplasm
RS2144401197 LOXHD1 Health Risk Pathogenic —
RS2144401714 SMAD4 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome
RS2144401795 SMAD4 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2144401809 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2144401899 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2144402036 SMAD4 Health Risk Likely pathogenic Juvenile polyposis syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
RS2144403104 TCF4 Health Risk Likely pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS2144403413 MALT1 Health Risk Likely pathogenic Combined immunodeficiency due to MALT1 deficiency, Combined immunodeficiency due to MALT1 deficiency
RS2144405014 SMAD4 Health Risk Conflicting classifications of pathogenicity Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
RS2144405369 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2144405621 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2144405750 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2144406508 TTR Health Risk Likely pathogenic Amyloidosis, hereditary systemic 1
RS2144406525 TTR Health Risk Pathogenic Amyloidosis, hereditary systemic 1
RS2144406630 TCF4 Health Risk Pathogenic/Likely pathogenic Global developmental delay, Pitt-Hopkins syndrome
RS2144407451 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Neoplasm
RS2144408449 TCF4 Health Risk Pathogenic Pitt-Hopkins syndrome, Pitt-Hopkins syndrome
RS2144409444 TTR Health Risk Pathogenic Amyloidosis, hereditary systemic 1
RS2144409459 TTR Health Risk Pathogenic/Likely pathogenic Amyloidosis, hereditary systemic 1
RS2144412389 TEX14 Health Risk Pathogenic Non-obstructive azoospermia, Non-obstructive azoospermia
RS2144412496 CFAP53 Health Risk Likely pathogenic Heterotaxy, visceral
RS2144414230 CIITA Health Risk Likely pathogenic MHC class II deficiency, MHC class II deficiency
RS2144414426 TTR Health Risk Pathogenic/Likely pathogenic Amyloidosis, hereditary systemic 1
RS2144417768 MYO5B Health Risk Pathogenic Congenital microvillous atrophy, Congenital microvillous atrophy
RS2144417850 LOXHD1 Health Risk Pathogenic —
RS2144417880 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2144418764 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2144419362 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2144419495 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS2144419566 AXIN2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome
RS2144419744 SMAD4 Health Risk Pathogenic Gastric cancer, Gastric cancer
RS2144427004 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2144427024 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2144427139 SMAD4 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Hereditary cancer-predisposing syndrome
RS2144427253 SMAD4 Health Risk Pathogenic Carcinoma of colon, Carcinoma of colon
RS2144427288 SMAD4 Health Risk Pathogenic Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
RS2144427357 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2144427507 SMAD4 Health Risk Pathogenic Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Juvenile polyposis syndrome
RS2144427601 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2144427739 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2144428238 SMAD4 Health Risk Conflicting classifications of pathogenicity Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Juvenile polyposis syndrome
RS2144428309 SMAD4 Health Risk Likely pathogenic Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
RS2144428498 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Hereditary cancer-predisposing syndrome
RS2144428984 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2144429392 SMAD4 Health Risk Pathogenic/Likely pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2144429483 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2144432097 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2144432919 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2144433681 SMAD4 Health Risk Likely pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2144433682 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2144433886 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS2144438870 AXIN2 Health Risk Likely pathogenic Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS2144439332 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2144440026 AXIN2 Health Risk Pathogenic AXIN2-related attenuated familial adenomatous polyposis, Oligodontia-cancer predisposition syndrome
RS2144440630 AXIN2 Health Risk Pathogenic/Likely pathogenic AXIN2-related attenuated familial adenomatous polyposis, Oligodontia-cancer predisposition syndrome
RS2144440894 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2144441207 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS2144443827 AXIN2 Health Risk Pathogenic AXIN2-related attenuated familial adenomatous polyposis, Oligodontia-cancer predisposition syndrome
RS2144446385 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Colorectal cancer
RS2144446798 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2144447056 SMAD4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome
RS2144447925 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2144448377 AXIN2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome
RS2144448744 AXIN2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2144448800 AXIN2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Oligodontia-cancer predisposition syndrome
RS2144449769 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2144451495 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2144451738 SMAD4 Health Risk Likely pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2144451929 SMAD4 Health Risk Pathogenic Juvenile polyposis syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2144455707 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2144455898 AXIN2 Health Risk Conflicting classifications of pathogenicity Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
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