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
RS2525589542 CPT2 Health Risk Likely pathogenic Encephalopathy, acute
RS2525589710 CPT2 Health Risk Likely pathogenic Encephalopathy, acute
RS2525589787 CPT2 Health Risk Pathogenic Carnitine palmitoyltransferase II deficiency, Encephalopathy
RS2525589800 CPT2 Health Risk Likely pathogenic Encephalopathy, acute
RS2525589804 CPT2 Health Risk Likely pathogenic Encephalopathy, acute
RS2525589811 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS2525589836 CPT2 Health Risk Pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS2525589888 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS2525589981 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS2525590120 CPT2 Health Risk Likely pathogenic Encephalopathy, acute
RS2525590337 CPT2 Health Risk Likely pathogenic Encephalopathy, acute
RS2525590396 CPT2 Health Risk Likely pathogenic Encephalopathy, acute
RS2525590698 CPT2 Health Risk Likely pathogenic Encephalopathy, acute
RS2525590777 CPT2 Health Risk Pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS2525592797 GLUL Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 16
RS2525596168 CPT2 Health Risk Likely pathogenic Encephalopathy, acute
RS2525596224 CPT2 Health Risk Pathogenic CPT2-related disorder, Carnitine palmitoyltransferase II deficiency
RS2525596432 CPT2 Health Risk Pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS2525596435 CPT2 Health Risk Likely pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS2525596685 CPT2 Health Risk Likely pathogenic Encephalopathy, acute
RS2525599583 ATF6 Health Risk Conflicting classifications of pathogenicity Achromatopsia 7, Achromatopsia 7
RS2525604589 NTRK1 Health Risk Likely pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS2525608577 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2525608929 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2525609038 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2525609231 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2525609308 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Glioma susceptibility 1
RS2525609335 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS2525609535 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2525614292 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS2525614650 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS2525615664 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS2525620171 COL11A1 Health Risk Pathogenic —
RS2525628302 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS2525630257 RORC Health Risk Pathogenic Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency, Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
RS2525635575 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2525636128 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2525636733 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2525639606 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS2525639882 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS2525640747 GABRD Health Risk Likely pathogenic GABRD-Related Disorders, Epilepsy
RS2525643959 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS2525644032 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS2525644185 GABRD Health Risk Likely pathogenic Idiopathic generalized epilepsy, Idiopathic generalized epilepsy
RS2525644388 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS2525647407 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2525648200 ASH1L Health Risk Likely pathogenic —
RS2525648201 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2525648243 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2525652568 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2525652620 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2525652858 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2525654022 ASH1L Health Risk Likely pathogenic Intellectual disability, autosomal dominant 52
RS2525654508 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS2525656325 ACBD6 Health Risk Pathogenic Neurodevelopmental disorder with progressive movement abnormalities, Neurodevelopmental disorder with progressive movement abnormalities
RS2525659893 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS2525660178 NTRK1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2525660364 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS2525667534 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS2525667554 NTRK1 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Hereditary insensitivity to pain with anhidrosis
RS2525670078 COL11A1 Health Risk Likely pathogenic —
RS2525670965 COL11A1 Health Risk Pathogenic —
RS2525680353 ASH1L Health Risk Likely pathogenic Intellectual disability, autosomal dominant 52
RS2525696069 KCND3 Health Risk Likely pathogenic —
RS2525697053 MLH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2525698694 ACADM Health Risk Likely pathogenic ACADM-related disorder, ACADM-related disorder
RS2525698722 KCND3 Health Risk Likely pathogenic Spinocerebellar ataxia type 19/22, Spinocerebellar ataxia type 19/22
RS2525698838 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2525698959 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2525698997 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2525699215 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2525699283 KCND3 Health Risk Likely pathogenic Spinocerebellar ataxia type 19/22, Spinocerebellar ataxia type 19/22
RS2525699415 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2525699516 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2525699682 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2525699762 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2525699778 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2525699808 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2525699882 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2525699893 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2525706560 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2525706737 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2525706749 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2525706798 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2525706932 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2525706936 ACADM Health Risk Pathogenic/Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2525709329 NDUFS2 Health Risk Likely pathogenic —
RS2525716351 CKS1B;SHC1 Health Risk Pathogenic Breast neoplasm, Breast neoplasm
RS2525716661 CKS1B;LOC129931529;SHC1 Health Risk Pathogenic Breast neoplasm, Breast neoplasm
RS2525724749 ARID1A Health Risk Pathogenic —
RS2525730822 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2525736683 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2525744586 HJV Health Risk Pathogenic Hemochromatosis type 2A, Hemochromatosis type 2A
RS2525744746 DMD Health Risk Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dystrophin, Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
RS2525749949 HJV Health Risk Pathogenic —
RS2525753200 ASH1L Health Risk Likely pathogenic ASH1L-related disorder, ASH1L-related disorder
RS2525756260 HJV Health Risk Pathogenic Hemochromatosis type 2A, Hemochromatosis type 2A
RS2525759209 APOA2 Health Risk Likely pathogenic —
RS2525771157 ASH1L Health Risk Pathogenic —
RS2525791495 FLAD1 Health Risk Likely pathogenic —
« Prev 1 ... 2349 2350 2351 2352 2353 2354 2355 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →