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
RS2540954868 BBS10 Health Risk Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS2540954872 BBS10 Health Risk Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS2540954917 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2540954952 CEP164 Health Risk Pathogenic Nephronophthisis 15, Nephronophthisis 15
RS2540955069 BBS10 Health Risk Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS2540955136 BBS10 Health Risk Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS2540955199 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2540955223 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2540955343 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2540955346 BBS10 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
RS2540955375 BBS10 Health Risk Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS2540955435 BBS10 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
RS2540955443 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2540955463 BBS10 Health Risk Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS2540955508 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS2540955553 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2540955565 BBS10 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 10
RS2540955646 BBS10 Health Risk Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS2540955771 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2540955829 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2540955907 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2540955932 BBS10 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2540955964 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2540955966 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2540956172 BBS10 Health Risk Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS2540956181 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2540956270 BBS10 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS2540956288 BBS10 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2540956341 BBS10 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
RS2540956342 BBS10 Health Risk Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS2540956394 BBS10 Health Risk Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS2540956424 BBS10 Health Risk Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS2540956436 BBS10 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 10
RS2540956447 BBS10 Health Risk Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS2540956536 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2540956551 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2540956590 BBS10 Health Risk Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS2540956687 BBS10 Health Risk Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS2540956787 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2540956792 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2540956816 BBS10 Health Risk Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS2540956819 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2540956856 BBS10 Health Risk Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS2540956871 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2540956950 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2540957098 BBS10 Health Risk Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS2540957124 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2540957265 BBS10 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
RS2540957693 BBS10 Health Risk Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS2540957709 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 10
RS2540957723 BBS10 Health Risk Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS2540957733 BBS10 Health Risk Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS2540957758 BBS10 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2540957802 BBS10 Health Risk Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS2540957950 BBS10 Health Risk Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome 10
RS2540957989 BBS10 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 10, Bardet-Biedl syndrome
RS2540959796 TSFM Health Risk Likely pathogenic Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
RS2540960357 SMARCC2 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Intellectual disability
RS2540964625 ABCC9 Health Risk Pathogenic Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O
RS2540964910 TSFM Health Risk Pathogenic —
RS2540965002 TSFM Health Risk Likely pathogenic Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
RS2540965100 TSFM Health Risk Pathogenic —
RS2540965278 TSFM Health Risk Pathogenic —
RS2540965587 TSFM Health Risk Likely pathogenic Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
RS2540965622 TSFM Health Risk Likely pathogenic Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
RS2540966009 TSFM Health Risk Pathogenic —
RS2540966023 TSFM Health Risk Pathogenic —
RS2540972828 SMARCC2 Health Risk Pathogenic —
RS2540980636 DNM1L Health Risk Pathogenic/Likely pathogenic Encephalopathy, lethal
RS2540985878 HPS6 Health Risk Pathogenic —
RS2540985942 HPS6 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6
RS2540986057 HPS6 Health Risk Pathogenic —
RS2540986172 HPS6 Health Risk Pathogenic —
RS2540986416 HPS6 Health Risk Pathogenic —
RS2540986555 HPS6 Health Risk Pathogenic —
RS2540986604 HPS6 Health Risk Pathogenic —
RS2540986624 HPS6 Health Risk Pathogenic —
RS2540986669 HPS6 Health Risk Pathogenic —
RS2540986710 HPS6 Health Risk Pathogenic —
RS2540986756 HPS6 Health Risk Pathogenic Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6
RS2540986889 HPS6 Health Risk Pathogenic —
RS2540986906 HPS6 Health Risk Pathogenic —
RS2540986934 HPS6 Health Risk Pathogenic —
RS2540986940 HPS6 Health Risk Pathogenic —
RS2540987220 HPS6 Health Risk Pathogenic —
RS2540987497 HPS6 Health Risk Pathogenic/Likely pathogenic —
RS2540987646 HPS6 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6
RS2540987661 HPS6 Health Risk Pathogenic —
RS2540987954 HPS6 Health Risk Pathogenic —
RS2540988143 HPS6 Health Risk Pathogenic —
RS2540988146 HPS6 Health Risk Likely pathogenic Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome
RS2540988395 HPS6 Health Risk Pathogenic —
RS2540988430 HPS6 Health Risk Pathogenic —
RS2540988736 HPS6 Health Risk Likely pathogenic Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome
RS2540988748 HPS6 Health Risk Pathogenic Hermansky-Pudlak syndrome 6, Hermansky-Pudlak syndrome 6
RS2540988872 HPS6 Health Risk Likely pathogenic Hermansky-Pudlak syndrome, Hermansky-Pudlak syndrome
RS2540991022 FANCC Health Risk Pathogenic Fanconi anemia, Hereditary cancer-predisposing syndrome
RS2540993380 DNM1L Health Risk Likely pathogenic Encephalopathy, lethal
RS2540995231 ACBD5 Health Risk Pathogenic —
RS2540998650 DNM1L Health Risk Likely pathogenic —
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