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
RS2544252448 AXIN2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2544252553 CCDC88C Health Risk Pathogenic —
RS2544252708 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS2544252847 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Hereditary cancer-predisposing syndrome
RS2544253193 AXIN2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2544253595 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS2544254027 TSC2 Health Risk Likely pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544254066 AXIN2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2544254111 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS2544254203 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS2544254219 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2544254526 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS2544254746 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS2544254960 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS2544255256 TSC2 Health Risk Likely pathogenic —
RS2544255457 AXIN2 Health Risk Pathogenic/Likely pathogenic Oligodontia-cancer predisposition syndrome, Colorectal cancer
RS2544255967 FLCN Health Risk Likely pathogenic —
RS2544256340 AXIN2 Health Risk Pathogenic Oligodontia-cancer predisposition syndrome, Oligodontia-cancer predisposition syndrome
RS2544256678 CCDC88C Health Risk Likely pathogenic —
RS2544256966 TSC2 Health Risk Likely pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544257930 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544258497 FLCN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2544258529 TSC2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2544258719 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2544258787 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2544258886 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2544259795 PPFIBP1 Health Risk Likely pathogenic Neurodevelopmental disorder with seizures, microcephaly
RS2544262969 TSC2 Health Risk Pathogenic —
RS2544263148 TSC2 Health Risk Likely pathogenic Isolated focal cortical dysplasia type II, Isolated focal cortical dysplasia type II
RS2544263394 RPGRIP1L Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2544267283 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544268184 CCDC88C Health Risk Likely pathogenic —
RS2544268813 CCDC88C Health Risk Pathogenic —
RS2544270498 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544270683 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS2544270776 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544270836 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2544270938 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544270975 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544271382 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544273100 TSC2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2544273183 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS2544273738 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544273997 TSC2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2544275708 FANCA Health Risk Likely pathogenic Fanconi anemia, Fanconi anemia
RS2544275712 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544276097 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia complementation group A
RS2544278666 ANKRD11 Health Risk Pathogenic KBG syndrome, Inborn genetic diseases
RS2544278982 ANKRD11 Health Risk Likely pathogenic KBG syndrome, KBG syndrome
RS2544279075 FUS Health Risk Pathogenic Tremor, hereditary essential
RS2544279181 FUS Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 6, Amyotrophic lateral sclerosis type 6
RS2544279594 FUS Health Risk Pathogenic Amyotrophic lateral sclerosis type 6, Tremor
RS2544279628 RPGRIP1L Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2544280687 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome 1, Birt-Hogg-Dube syndrome 1
RS2544280718 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2544281137 FUS Health Risk Likely pathogenic —
RS2544281896 FLCN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2544282524 FLCN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2544282973 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544283357 FLCN Health Risk Pathogenic —
RS2544284170 FLCN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2544284250 FLCN Health Risk Likely pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2544284444 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Hereditary cancer-predisposing syndrome
RS2544284689 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544285159 TSC2 Health Risk Likely pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544285591 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544287299 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544288124 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2544288250 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2544288604 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2544288758 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2544289562 CCDC88C Health Risk Pathogenic —
RS2544289649 DNAH9 Health Risk Likely pathogenic Ciliary dyskinesia, primary
RS2544300043 MYH10 Health Risk Pathogenic See cases, See cases
RS2544300648 RPGRIP1L Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2544301732 DNAH9 Health Risk Pathogenic —
RS2544302863 FANCA Health Risk Pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544303152 RAB34 Health Risk Pathogenic Orofaciodigital syndrome 20, Orofaciodigital syndrome 20
RS2544303349 FANCA Health Risk Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia complementation group A
RS2544304367 FLCN Health Risk Likely pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2544304935 ANKRD11 Health Risk Conflicting classifications of pathogenicity KBG syndrome, KBG syndrome
RS2544305562 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2544305641 FANCA Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2544305829 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2544305862 ANKRD11 Health Risk Likely pathogenic KBG syndrome, KBG syndrome
RS2544305978 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544306022 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2544306369 TSC2 Health Risk Pathogenic —
RS2544307013 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2544307146 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2544307799 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2544308169 TSC2 Health Risk Pathogenic Tuberous sclerosis 2, Tuberous sclerosis 2
RS2544308289 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2544308444 RPGRIP1L Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2544308812 TSC2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2544309375 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2544309527 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2544309561 ANKRD11 Health Risk Likely pathogenic KBG syndrome, KBG syndrome
RS2544309625 FLCN Health Risk Pathogenic Birt-Hogg-Dube syndrome, Birt-Hogg-Dube syndrome
RS2544310470 RPGRIP1L Health Risk Pathogenic Meckel-Gruber syndrome, Joubert syndrome
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