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
RS2152010916 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS2152010923 PRPH2 Health Risk Pathogenic Multifocal pattern dystrophy simulating fundus flavimaculatus, Retinal disorder
RS2152010930 PRPH2 Health Risk Conflicting classifications of pathogenicity PRPH2-related disorder, PRPH2-related disorder
RS2152010940 PRPH2 Health Risk Pathogenic —
RS2152010946 PRPH2 Health Risk Pathogenic PRPH2-related disorder, Retinal dystrophy
RS2152010954 PRPH2 Health Risk Likely pathogenic —
RS2152010970 PRPH2 Health Risk Pathogenic —
RS2152010976 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS2152011002 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS2152011005 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS2152011008 PRPH2 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2152011015 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS2152011018 PRPH2 Health Risk Pathogenic —
RS2152011033 PRPH2 Health Risk Pathogenic —
RS2152011039 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS2152011045 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS2152011046 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS2152011053 PRPH2 Health Risk Pathogenic —
RS2152011068 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS2152011091 PRPH2 Health Risk Likely pathogenic PRPH2-related disorder, PRPH2-related disorder
RS2152011112 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS2152011125 PRPH2 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2152011132 PRPH2 Health Risk Pathogenic —
RS2152011135 PRPH2 Health Risk Pathogenic PRPH2-related disorder, Retinal dystrophy
RS2152011142 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS2152011148 PRPH2 Health Risk Pathogenic PRPH2-related disorder, PRPH2-related disorder
RS2152017390 FANCI Health Risk Pathogenic Fanconi anemia complementation group I, Fanconi anemia
RS2152019791 TCF12 Health Risk Pathogenic TCF12-related craniosynostosis, TCF12-related craniosynostosis
RS2152019859 TCF12 Health Risk Pathogenic HYPOGONADOTROPIC HYPOGONADISM 26 WITH ANOSMIA, HYPOGONADOTROPIC HYPOGONADISM 26 WITH ANOSMIA
RS2152056169 POLG Health Risk Likely pathogenic —
RS2152056369 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS2152056837 TCF12 Health Risk Pathogenic HYPOGONADOTROPIC HYPOGONADISM 26 WITH ANOSMIA, HYPOGONADOTROPIC HYPOGONADISM 26 WITH ANOSMIA
RS2152058760 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS2152058768 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS2152059779 POLG Health Risk Likely pathogenic —
RS2152060519 TCF12 Health Risk Pathogenic Craniosynostosis syndrome, Craniosynostosis syndrome
RS2152060795 TCF12 Health Risk Pathogenic —
RS2152060929 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS2152060967 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS2152060994 POLG Health Risk Conflicting classifications of pathogenicity Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS2152061062 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS2152061226 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS2152061668 POLG Health Risk Likely pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS2152062357 POLG Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome, Mitochondrial DNA depletion syndrome
RS2152062443 POLG Health Risk Likely pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS2152063421 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS2152063472 POLG Health Risk Likely pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS2152065886 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS2152065935 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS2152065937 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS2152066873 POLG Health Risk Likely pathogenic —
RS2152067781 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS2152067996 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS2152068651 POLG Health Risk Pathogenic Progressive sclerosing poliodystrophy, Progressive sclerosing poliodystrophy
RS2152076090 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Ellis-van Creveld syndrome
RS2152076522 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2152076745 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2152080114 MAPKBP1 Health Risk Pathogenic/Likely pathogenic Nephronophthisis 20, MAPKBP1-related disorder
RS2152083811 MAPKBP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2152087451 CDH3 Health Risk Likely pathogenic —
RS2152087452 CDH3 Health Risk Likely pathogenic —
RS2152094234 STING1 Health Risk Likely pathogenic STING-associated vasculopathy with onset in infancy, STING-associated vasculopathy with onset in infancy
RS2152094799 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2152098451 TCF12 Health Risk Pathogenic —
RS2152099040 TCF12 Health Risk Likely pathogenic —
RS2152100234 CDH3 Health Risk Pathogenic Hypotrichosis simplex, Hypotrichosis simplex
RS2152102729 CDH3 Health Risk Likely pathogenic —
RS2152104087 LRBA Health Risk Likely pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS2152105500 CDH3 Health Risk Pathogenic —
RS2152105512 CDH3 Health Risk Pathogenic —
RS2152105628 CDH3 Health Risk Likely pathogenic —
RS2152106824 CDH3 Health Risk Likely pathogenic —
RS2152107192 CDH3 Health Risk Likely pathogenic —
RS2152113974 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2152113992 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS2152114329 CDH1 Health Risk Pathogenic/Likely pathogenic Gastric cancer, Hereditary diffuse gastric adenocarcinoma
RS2152114347 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2152114474 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2152114475 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS2152126582 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS2152126585 CDH1 Health Risk Likely pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2152126615 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS2152126639 CDH1 Health Risk Pathogenic —
RS2152126853 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS2152126877 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS2152126900 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2152126989 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2152127078 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Familial cancer of breast
RS2152129577 CDH1 Health Risk Likely pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2152129697 CDH1 Health Risk Likely pathogenic Breast carcinoma, Breast carcinoma
RS2152129745 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2152129855 CDH1 Health Risk Conflicting classifications of pathogenicity Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2152130040 CDH1 Health Risk Likely pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2152130050 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS2152130073 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2152130081 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary cancer-predisposing syndrome
RS2152130104 CDH1 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2152130135 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
RS2152130206 CDH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary diffuse gastric adenocarcinoma
RS2152130226 CDH1 Health Risk Pathogenic Hereditary diffuse gastric adenocarcinoma, Hereditary diffuse gastric adenocarcinoma
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