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
RS2546905205 ATM Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2546907359 LRBA Health Risk Pathogenic/Likely pathogenic Combined immunodeficiency due to LRBA deficiency, Combined immunodeficiency due to LRBA deficiency
RS2546908108 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS2546908228 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2546908288 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS2546908342 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS2546908450 ATM Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2546908635 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2546908755 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2546908787 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2546908896 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS2546909104 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2546909512 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2546909840 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2546909885 ATM Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2546909941 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2546910311 ATM Health Risk Pathogenic ATM-related cancer predisposition, ATM-related cancer predisposition
RS2546910604 ATM Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2546910617 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2546910757 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2546910823 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2546910831 ATM Health Risk Likely pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2546910879 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2546910913 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS2546910928 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS2546910992 ATM Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2546911114 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2546911328 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2546911333 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS2546911472 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS2546911765 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2546911854 ABCB4 Health Risk Likely pathogenic —
RS2546914056 CCN6 Health Risk Pathogenic/Likely pathogenic Progressive pseudorheumatoid dysplasia, Progressive pseudorheumatoid dysplasia
RS2546915819 SLC25A15 Health Risk Likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS2546915868 SLC25A15 Health Risk Pathogenic/Likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS2546915876 SLC25A15 Health Risk Likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS2546917536 SLC25A15 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2546917556 SLC25A15 Health Risk Pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS2546917561 SLC25A15 Health Risk Pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS2546917576 SLC25A15 Health Risk Likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS2546917584 SLC25A15 Health Risk Pathogenic/Likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS2546917651 SLC25A15 Health Risk Likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS2546917744 SLC25A15 Health Risk Pathogenic/Likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS2546919756 CCN6 Health Risk Pathogenic —
RS2546919773 CCN6 Health Risk Pathogenic Progressive pseudorheumatoid dysplasia, Progressive pseudorheumatoid dysplasia
RS2546919941 CCN6 Health Risk Pathogenic —
RS2546920176 CCN6 Health Risk Pathogenic/Likely pathogenic Progressive pseudorheumatoid dysplasia, Progressive pseudorheumatoid dysplasia
RS2546920750 SLC25A15 Health Risk Pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS2546920755 SLC25A15 Health Risk Pathogenic/Likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS2546920893 SLC25A15 Health Risk Likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS2546920927 SLC25A15 Health Risk Likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS2546920944 SLC25A15 Health Risk Likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS2546921923 SLC25A15 Health Risk Likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS2546922090 SLC25A15 Health Risk Pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS2546922436 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS2546922682 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2546922684 SLC25A15 Health Risk Pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS2546922700 SLC25A15 Health Risk Pathogenic/Likely pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS2546922711 SLC25A15 Health Risk Likely pathogenic SLC25A15-related disorder, SLC25A15-related disorder
RS2546922719 SLC25A15 Health Risk Pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS2546922730 SLC25A15 Health Risk Pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS2546922856 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2546922894 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS2546922985 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS2546923148 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2546923286 DNAH5 Health Risk Likely pathogenic Primary ciliary dyskinesia 3, Primary ciliary dyskinesia 3
RS2546923353 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2546923499 SLC25A15 Health Risk Pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS2546923922 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2546923954 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2546924001 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2546924219 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Ataxia-telangiectasia syndrome
RS2546924313 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2546924454 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2546924702 CCN6 Health Risk Pathogenic —
RS2546924717 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2546924772 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2546925715 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2546925878 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2546926161 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2546926288 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2546926314 ATM Health Risk Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2546926479 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2546926562 ATM Health Risk Pathogenic Ataxia-telangiectasia syndrome, Familial cancer of breast
RS2546926703 RYR2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS2546926824 RYR2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS2546928153 PXDN Health Risk Likely pathogenic Anterior segment dysgenesis 7, Anterior segment dysgenesis 7
RS2546928903 CCN6 Health Risk Pathogenic CCN6-related disorder, CCN6-related disorder
RS2546928929 CCN6 Health Risk Pathogenic —
RS2546928953 CCN6 Health Risk Pathogenic —
RS2546929120 CCN6 Health Risk Pathogenic —
RS2546929180 CCN6 Health Risk Likely pathogenic Progressive pseudorheumatoid dysplasia, Progressive pseudorheumatoid dysplasia
RS2546929184 CCN6 Health Risk Pathogenic Progressive pseudorheumatoid dysplasia, Progressive pseudorheumatoid dysplasia
RS2546929612 NEK1 Health Risk Pathogenic Mohr syndrome, Mohr syndrome
RS2546929747 NEK1 Health Risk Likely pathogenic Short-rib thoracic dysplasia 6 with or without polydactyly, Short-rib thoracic dysplasia 6 with or without polydactyly
RS2546930042 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2546930075 ATM Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS2546930511 CCN6 Health Risk Likely pathogenic Progressive pseudorheumatoid dysplasia, Progressive pseudorheumatoid dysplasia
RS2546930752 ATM Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2546930818 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
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