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
RS1722345825 GFM1 Health Risk Pathogenic —
RS1722347968 RNF13 Health Risk Conflicting classifications of pathogenicity —
RS1722355988 GFM1 Health Risk Pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS1722414362 HPS3 Health Risk Pathogenic —
RS1722443590 KIT Health Risk Pathogenic Gastrointestinal stromal tumor, Gastrointestinal stromal tumor
RS1722451930 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1722452431 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1722457560 GFM1 Health Risk Pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS1722463582 GFM1 Health Risk Conflicting classifications of pathogenicity Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS1722491084 ABRAXAS1 Health Risk Conflicting classifications of pathogenicity —
RS1722635259 MME Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2T, MME-related disorder
RS17226526 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS1722704092 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1722706795 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Ovarian cancer
RS1722726229 HPS3 Health Risk Pathogenic —
RS1722728402 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS1722731535 ANKRD17 Health Risk Likely pathogenic Chopra-Amiel-Gordon syndrome, Chopra-Amiel-Gordon syndrome
RS1722734460 HPS3 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS1722736328 HPS3 Health Risk Pathogenic —
RS1722737993 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS17227403 FANCA Health Risk Conflicting classifications of pathogenicity Fanconi anemia, Fanconi anemia complementation group A
RS1722814486 EVC2 Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1722830922 ANKRD17 Health Risk Likely pathogenic Intellectual disability, Chopra-Amiel-Gordon syndrome
RS1722845773 PROM1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS1722855407 PROM1 Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS1722884769 PDGFRA Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1722933723 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1722942071 EVC2 Health Risk Likely pathogenic Curry-Hall syndrome, Ellis-van Creveld syndrome
RS1722951842 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1722958726 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1722972972 KIT Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1722986802 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1723019796 EVC Health Risk Likely pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS1723042117 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS1723136070 ABRAXAS1 Health Risk Conflicting classifications of pathogenicity —
RS1723295850 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS17232973 FANCA Health Risk Pathogenic/Likely pathogenic Fanconi anemia complementation group A, Fanconi anemia
RS1723365687 HPS3 Health Risk Pathogenic —
RS1723367742 HPS3 Health Risk Pathogenic —
RS1723387280 PPA2 Health Risk Likely pathogenic Sudden cardiac failure, infantile
RS1723396043 POLR2B Health Risk Likely pathogenic Esophageal atresia/tracheoesophageal fistula, Esophageal atresia/tracheoesophageal fistula
RS1723460138 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1723542820 ANKRD17 Health Risk Likely pathogenic Chopra-Amiel-Gordon syndrome, Chopra-Amiel-Gordon syndrome
RS1723543163 PROM1 Health Risk Likely pathogenic —
RS1723551652 MED12L Health Risk Pathogenic Nizon-Isidor syndrome, Nizon-Isidor syndrome
RS1723572750 GFM1 Health Risk Pathogenic/Likely pathogenic See cases, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS1723603076 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Idiopathic hypereosinophilic syndrome
RS1723605295 HPS3 Health Risk Pathogenic —
RS1723609962 HPS3 Health Risk Pathogenic/Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS17236798 SLC12A6 Health Risk Conflicting classifications of pathogenicity Agenesis of the corpus callosum with peripheral neuropathy, SLC12A6-related disorder
RS1723717935 P3H2 Health Risk Likely pathogenic —
RS1723731778 CFI Health Risk Conflicting classifications of pathogenicity Factor I deficiency, Factor I deficiency
RS1723933181 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS1723935867 CFI Health Risk Likely pathogenic CFI-related disorder, CFI-related disorder
RS1723938282 TRMT10A Health Risk Likely pathogenic Microcephaly, short stature
RS1723945036 HPS3 Health Risk Conflicting classifications of pathogenicity HPS3-related disorder, HPS3-related disorder
RS1723945421 NFKB1 Health Risk Pathogenic/Likely pathogenic Immunodeficiency, common variable
RS1724152035 TRMT10A Health Risk Pathogenic —
RS1724246827 TRMT10A Health Risk Pathogenic Microcephaly, short stature
RS1724263784 MED12L Health Risk Likely pathogenic Nizon-Isidor syndrome, Nizon-Isidor syndrome
RS1724289595 PCYT1A Health Risk Pathogenic Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome, Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
RS1724341846 PIK3CA Health Risk Pathogenic PIK3CA related overgrowth syndrome, PIK3CA related overgrowth syndrome
RS1724342112 PIK3CA Health Risk Pathogenic/Likely pathogenic PIK3CA-related disorder, Neoplasm
RS1724343994 PIK3CA Health Risk Likely pathogenic PIK3CA related overgrowth syndrome, Overgrowth syndrome and/or cerebral malformations due to abnormalities in MTOR pathway genes
RS1724363237 PIK3CA Health Risk Likely pathogenic Squamous cell lung carcinoma, Squamous cell lung carcinoma
RS1724367933 EXOSC9 Health Risk Pathogenic —
RS1724402529 CFI Health Risk Conflicting classifications of pathogenicity Age related macular degeneration 13, Atypical hemolytic-uremic syndrome with I factor anomaly
RS1724405916 PIK3CA Health Risk Pathogenic Colorectal cancer, Colorectal cancer
RS1724417810 PDGFRA Health Risk Conflicting classifications of pathogenicity Gastrointestinal stromal tumor, Hereditary cancer-predisposing syndrome
RS1724507777 PIK3CA Health Risk Pathogenic CLOVES syndrome, Capillary malformation
RS1724509208 HPS3 Health Risk Pathogenic —
RS1724515936 HPS3 Health Risk Likely pathogenic Hermansky-Pudlak syndrome 3, Hermansky-Pudlak syndrome 3
RS1724674149 PIK3CA Health Risk Pathogenic/Likely pathogenic Megalencephaly-capillary malformation-polymicrogyria syndrome, Neoplasm
RS1724822643 PDGFRA Health Risk Conflicting classifications of pathogenicity Idiopathic hypereosinophilic syndrome, Gastrointestinal stromal tumor
RS1724867456 NFKB1 Health Risk Pathogenic Immunodeficiency, common variable
RS1724875502 NFKB1 Health Risk Pathogenic Immunodeficiency, common variable
RS1724876868 NFKB1 Health Risk Pathogenic —
RS1724918747 PIK3CA Health Risk Conflicting classifications of pathogenicity Cowden syndrome, Cowden syndrome
RS1724946838 OPA1 Health Risk Pathogenic Optic atrophy with or without deafness, ophthalmoplegia
RS1724954436 PIK3CA Health Risk Likely pathogenic Glycogen storage disease, type II
RS1725000714 NSD2 Health Risk Pathogenic 4p partial monosomy syndrome, 4p partial monosomy syndrome
RS1725011800 BBS7 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 7, Bardet-Biedl syndrome
RS1725107158 PRDM5 Health Risk Likely pathogenic Brittle cornea syndrome 2, Brittle cornea syndrome 2
RS1725126993 MTTP Health Risk Pathogenic —
RS1725164851 SPRY1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1725177764 FRAS1 Health Risk Pathogenic —
RS1725178752 MTTP Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS1725182255 FRAS1 Health Risk Pathogenic Fraser syndrome 1, Fraser syndrome 1
RS1725366621 MTTP Health Risk Likely pathogenic —
RS1725368580 MTTP Health Risk Likely pathogenic —
RS1725385758 BBS7 Health Risk Pathogenic Bardet-Biedl syndrome, BBS7-related disorder
RS1725388372 BBS7 Health Risk Pathogenic Bardet-Biedl syndrome 7, Bardet-Biedl syndrome 7
RS1725410386 MTTP Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS1725413862 MTTP Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS1725424733 GFM1 Health Risk Pathogenic —
RS1725442904 GFM1 Health Risk Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS1725514012 MTTP Health Risk Pathogenic —
RS1725516307 MTTP Health Risk Likely pathogenic Abetalipoproteinaemia, Abetalipoproteinaemia
RS1725516710 MTTP Health Risk Likely pathogenic —
RS1725520104 CP Health Risk Likely pathogenic —
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