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
RS2546784343 MSH3 Health Risk Likely pathogenic Endometrial carcinoma, Endometrial carcinoma
RS2546784353 MSH3 Health Risk Pathogenic —
RS2546784389 MSH3 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS2546785095 ABCB4 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 3, Progressive familial intrahepatic cholestasis type 3
RS2546786707 MSH3 Health Risk Pathogenic Familial adenomatous polyposis 4, Familial adenomatous polyposis 4
RS2546786711 MSH3 Health Risk Pathogenic Familial adenomatous polyposis 4, Familial adenomatous polyposis 4
RS2546786756 MSH3 Health Risk Pathogenic Familial adenomatous polyposis 4, Hereditary cancer-predisposing syndrome
RS2546786762 MSH3 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2546786768 MSH3 Health Risk Pathogenic —
RS2546786853 MSH3 Health Risk Likely pathogenic Familial adenomatous polyposis 4, Hereditary cancer-predisposing syndrome
RS2546789793 ABCB4 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 3, Progressive familial intrahepatic cholestasis type 3
RS2546789977 NEK1 Health Risk Pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
RS2546790263 ABCB4 Health Risk Pathogenic —
RS2546793663 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS2546794222 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS2546797436 MSH3 Health Risk Pathogenic Familial adenomatous polyposis 4, Familial adenomatous polyposis 4
RS2546797450 MSH3 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 4
RS2546797471 MSH3 Health Risk Likely pathogenic —
RS2546800624 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2546800840 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS2546801150 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS2546801418 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2546801549 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2546801557 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2546802277 TPO Health Risk Pathogenic —
RS2546805288 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS2546805957 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS2546806193 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS2546806383 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, DNAH5-related disorder
RS2546806603 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2546806644 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2546807137 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS2546814180 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS2546814225 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS2546814400 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2546814478 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2546814755 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS2546814805 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2546815057 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2546815071 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS2546817560 FGFR3 Health Risk Likely pathogenic Hypochondroplasia, Hypochondroplasia
RS2546818546 FGFR3 Health Risk Conflicting classifications of pathogenicity Achondroplasia, Hypochondroplasia
RS2546822495 BAZ2B Health Risk Likely pathogenic BAZ2B-related disorder, BAZ2B-related disorder
RS2546823502 BAZ2B Health Risk Conflicting classifications of pathogenicity See cases, BAZ2B-related disorder
RS2546825085 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS2546825502 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS2546825682 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS2546825777 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS2546827954 ARID1B Health Risk Conflicting classifications of pathogenicity —
RS2546828016 ABCB4 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 3, Progressive familial intrahepatic cholestasis type 3
RS2546828022 ABCB4 Health Risk Conflicting classifications of pathogenicity Progressive familial intrahepatic cholestasis type 3, Progressive familial intrahepatic cholestasis type 3
RS2546829263 ARID1B Health Risk Likely pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2546829391 FGFR3 Health Risk Likely pathogenic 46, XY disorder of sex development
RS2546829869 ABCB4 Health Risk Likely pathogenic Intrahepatic cholestasis, Intrahepatic cholestasis
RS2546830021 ABCB4 Health Risk Likely pathogenic ABCB4-related disorder, ABCB4-related disorder
RS2546830150 ABCB4 Health Risk Pathogenic ABCB4-related disorder, Cholestasis
RS2546830192 ABCB4 Health Risk Likely pathogenic —
RS2546832937 ASPH Health Risk Likely pathogenic Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome, Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
RS2546833788 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS2546833959 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS2546833960 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2546834331 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2546834702 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2546837371 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2546838229 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2546838553 ABCB4 Health Risk Likely pathogenic Cholestasis, intrahepatic
RS2546839430 ARID1B Health Risk Likely pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2546839479 ARID1B Health Risk Pathogenic Neurodevelopmental abnormality, Neurodevelopmental abnormality
RS2546840548 ARID1B Health Risk Likely pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2546841439 ABCB4 Health Risk Likely pathogenic ABCB4-related disorder, ABCB4-related disorder
RS2546843111 DNAH5 Health Risk Pathogenic/Likely pathogenic DNAH5-related disorder, Primary ciliary dyskinesia
RS2546843576 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2546843960 ARID1B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2546843977 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS2546844151 ARID1B Health Risk Pathogenic —
RS2546846179 ARID1B Health Risk Pathogenic Coffin-Siris syndrome 1, Coffin-Siris syndrome 1
RS2546848928 CEP63 Health Risk Pathogenic Seckel syndrome 6, Seckel syndrome 6
RS2546853775 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2546853821 ABCB4 Health Risk Pathogenic —
RS2546853979 ABCB4 Health Risk Likely pathogenic Cholestasis, intrahepatic
RS2546854025 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2546854047 ABCB4 Health Risk Pathogenic Progressive familial intrahepatic cholestasis type 3, Progressive familial intrahepatic cholestasis type 3
RS2546854166 ABCB4 Health Risk Likely pathogenic Cholestasis, intrahepatic
RS2546854192 ABCB4 Health Risk Likely pathogenic Progressive familial intrahepatic cholestasis, Progressive familial intrahepatic cholestasis
RS2546854230 ABCB4 Health Risk Pathogenic —
RS2546854717 PHACTR1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 70
RS2546857487 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS2546857495 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS2546857516 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS2546858325 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS2546859168 BAZ2B Health Risk Pathogenic BAZ2B-related disorder, BAZ2B-related disorder
RS2546860508 BAZ2B Health Risk Likely pathogenic BAZ2B-related Neurodevelopmental disorder, BAZ2B-related Neurodevelopmental disorder
RS2546861534 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2546861539 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2546861948 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2546862387 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2546862430 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2546862547 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2546862649 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2546862740 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
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