SNP Directory

400,964 genetic variants in our database.

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All (400,964) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS863223855 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS863223856 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Colorectal cancer
RS863223857 TGFBR2 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Loeys-Dietz syndrome
RS863223859 AARS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS863223860 AARS2 Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 8, Combined oxidative phosphorylation defect type 8
RS863223862 AARS2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS863223871 ACAD9 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS863223881 ACO2 Health Risk Conflicting classifications of pathogenicity —
RS863223884 COQ8A Health Risk Likely pathogenic —
RS863223887 COQ8A Health Risk Likely pathogenic —
RS863223895 AGK Health Risk Pathogenic Sengers syndrome, Sengers syndrome
RS863223897 AIFM1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth Neuropathy X, Combined oxidative phosphorylation deficiency
RS863223898 AIFM1 Health Risk Likely pathogenic —
RS863223900 ALAS2 Health Risk Pathogenic X-linked sideroblastic anemia 1, Pancreatic adenocarcinoma
RS863223901 ALAS2 Health Risk Pathogenic —
RS863223902 ALAS2 Health Risk Likely pathogenic —
RS863223903 ALAS2 Health Risk Likely pathogenic —
RS863223904 ALAS2 Health Risk Conflicting classifications of pathogenicity —
RS863223906 ALAS2 Health Risk Pathogenic —
RS863223910 ATPAF2 Health Risk Conflicting classifications of pathogenicity —
RS863223911 AUH Health Risk Conflicting classifications of pathogenicity 3-methylglutaconic aciduria type 1, 3-methylglutaconic aciduria type 1
RS863223913 AUH Health Risk Likely pathogenic —
RS863223915 BCS1L Health Risk Pathogenic —
RS863223916 TWNK Health Risk Conflicting classifications of pathogenicity —
RS863223919 TWNK Health Risk Pathogenic/Likely pathogenic Infantile onset spinocerebellar ataxia, Infantile onset spinocerebellar ataxia
RS863223920 TWNK Health Risk Pathogenic —
RS863223921 TWNK Health Risk Conflicting classifications of pathogenicity Infantile onset spinocerebellar ataxia, Autosomal recessive cerebellar ataxia
RS863223925 TWNK Health Risk Pathogenic —
RS863223926 MTRFR Health Risk Pathogenic Spastic paraplegia, Combined oxidative phosphorylation defect type 7
RS863223931 NDUFAF6 Health Risk Likely pathogenic —
RS863223932 NDUFAF6 Health Risk Conflicting classifications of pathogenicity Mitochondrial complex I deficiency, nuclear type 17
RS863223936 COQ2 Health Risk Pathogenic —
RS863223948 DGUOK Health Risk Pathogenic —
RS863223949 DGUOK Health Risk Pathogenic Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), Progressive external ophthalmoplegia with mitochondrial DNA deletions
RS863223953 DNM1L Health Risk Pathogenic Encephalopathy, lethal
RS863223954 ETHE1 Health Risk Likely pathogenic Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS863223955 ETHE1 Health Risk Pathogenic Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS863223956 ETHE1 Health Risk Conflicting classifications of pathogenicity Ethylmalonic encephalopathy, Ethylmalonic encephalopathy
RS863223962 FASTKD2 Health Risk Likely pathogenic —
RS863223965 FH Health Risk Pathogenic/Likely pathogenic Hereditary leiomyomatosis and renal cell cancer, Hereditary cancer-predisposing syndrome
RS863223966 FH Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer
RS863223967 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS863223968 FH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer
RS863223969 FH Health Risk Conflicting classifications of pathogenicity Hereditary leiomyomatosis and renal cell cancer, Hereditary cancer-predisposing syndrome
RS863223972 FH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS863223973 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS863223974 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS863223977 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS863223978 FH Health Risk Pathogenic/Likely pathogenic Fumarase deficiency, Hereditary leiomyomatosis and renal cell cancer
RS863223979 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS863223980 FH Health Risk Pathogenic Hereditary leiomyomatosis and renal cell cancer, Hereditary cancer-predisposing syndrome
RS863223981 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS863223982 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS863223983 FH Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS863223984 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer
RS863223985 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer
RS863223987 FH Health Risk Likely pathogenic —
RS863223988 FH Health Risk Pathogenic —
RS863223989 FH Health Risk Pathogenic —
RS863223990 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS863223991 FH Health Risk Pathogenic —
RS863223992 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Fumarase deficiency
RS863223993 FH Health Risk Pathogenic Hereditary leiomyomatosis and renal cell cancer, Hereditary cancer-predisposing syndrome
RS863223994 FH Health Risk Pathogenic —
RS863223995 FH Health Risk Pathogenic Hereditary leiomyomatosis and renal cell cancer, Hereditary cancer-predisposing syndrome
RS863223997 FH Health Risk Likely pathogenic —
RS863223998 FH Health Risk Pathogenic Ovarian serous cystadenocarcinoma, Ovarian serous cystadenocarcinoma
RS863224000 FH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer
RS863224001 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer
RS863224002 FH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer
RS863224003 FH Health Risk Likely pathogenic Hereditary leiomyomatosis and renal cell cancer, Hereditary cancer-predisposing syndrome
RS863224004 FH Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer
RS863224006 FH Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS863224007 FH Health Risk Pathogenic/Likely pathogenic Hereditary leiomyomatosis and renal cell cancer, Fumarase deficiency
RS863224008 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Fumarase deficiency
RS863224009 FH Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS863224010 FH Health Risk Pathogenic/Likely pathogenic Hereditary leiomyomatosis and renal cell cancer, Hereditary cancer-predisposing syndrome
RS863224011 FH Health Risk Pathogenic Hereditary leiomyomatosis and renal cell cancer, Hereditary leiomyomatosis and renal cell cancer
RS863224012 FH Health Risk Conflicting classifications of pathogenicity Hereditary leiomyomatosis and renal cell cancer, Hereditary leiomyomatosis and renal cell cancer
RS863224013 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer
RS863224015 FH Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS863224016 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary leiomyomatosis and renal cell cancer
RS863224017 FH Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS863224018 FOXRED1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS863224019 FOXRED1 Health Risk Conflicting classifications of pathogenicity —
RS863224020 FOXRED1 Health Risk Likely pathogenic —
RS863224022 G6PC1 Health Risk Conflicting classifications of pathogenicity Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS863224023 G6PC1 Health Risk Pathogenic Glycogen storage disease due to glucose-6-phosphatase deficiency type IA, Glycogen storage disease due to glucose-6-phosphatase deficiency type IA
RS863224028 GFER Health Risk Conflicting classifications of pathogenicity Mitochondrial disease, Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
RS863224030 GFM1 Health Risk Pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS863224032 GFM1 Health Risk Pathogenic/Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS863224033 GFM1 Health Risk Pathogenic/Likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1, Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
RS863224035 GFM1 Health Risk Conflicting classifications of pathogenicity —
RS863224039 GYS2 Health Risk Likely pathogenic —
RS863224040 HARS2 Health Risk Likely pathogenic —
RS863224042 HSPD1 Health Risk Likely pathogenic —
RS863224045 LARS1 Health Risk Conflicting classifications of pathogenicity —
RS863224047 LARS1 Health Risk Pathogenic —
RS863224048 LARS1 Health Risk Pathogenic —
RS863224052 LRPPRC Health Risk Pathogenic/Likely pathogenic Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
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