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
RS2525428168 POMGNT1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS2525428927 PAPPA2 Health Risk Pathogenic —
RS2525428998 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS2525429167 POMGNT1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS2525429573 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS2525429636 KCNJ10 Health Risk Pathogenic EAST syndrome, EAST syndrome
RS2525430106 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS2525430282 CEP104 Health Risk Likely pathogenic CEP104-related disorder, CEP104-related disorder
RS2525430986 KCNJ10 Health Risk Pathogenic EAST syndrome, EAST syndrome
RS2525431053 KCNJ10 Health Risk Pathogenic EAST syndrome, EAST syndrome
RS2525431132 KCNJ10 Health Risk Likely pathogenic EAST syndrome, EAST syndrome
RS2525431823 KCNJ10 Health Risk Pathogenic EAST syndrome, EAST syndrome
RS2525433079 COL11A1 Health Risk Likely pathogenic —
RS2525433209 COL11A1 Health Risk Conflicting classifications of pathogenicity Stickler syndrome type 2, COL11A1-related disorder
RS2525435346 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS2525435882 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS2525436154 POMGNT1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
RS2525437064 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS2525437182 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS2525448659 CEP104 Health Risk Likely pathogenic Autism spectrum disorder, Autism spectrum disorder
RS2525448754 CEP104 Health Risk Pathogenic Joubert syndrome and related disorders, Joubert syndrome and related disorders
RS2525451564 POMGNT1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
RS2525456167 CEP104 Health Risk Likely pathogenic Joubert syndrome and related disorders, Joubert syndrome and related disorders
RS2525462235 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS2525462732 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS2525463245 POMGNT1 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS2525463752 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS2525465722 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS2525465896 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS2525466855 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS2525470752 KLHL20 Health Risk Conflicting classifications of pathogenicity —
RS2525475600 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS2525475799 POMGNT1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS2525475821 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS2525475910 POMGNT1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
RS2525476571 POMGNT1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS2525476809 POMGNT1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
RS2525476930 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS2525490518 ATF6 Health Risk Likely pathogenic Achromatopsia 7, Achromatopsia 7
RS2525506206 SCN5A Health Risk Pathogenic —
RS2525524433 CEP104 Health Risk Likely pathogenic Joubert syndrome and related disorders, Joubert syndrome and related disorders
RS2525524684 CEP104 Health Risk Likely pathogenic Joubert syndrome and related disorders, Joubert syndrome and related disorders
RS2525532731 CACNA1E Health Risk Pathogenic Developmental and epileptic encephalopathy, 69
RS2525534950 CACNA1E Health Risk Conflicting classifications of pathogenicity —
RS2525536152 NCSTN Health Risk Pathogenic Acne inversa, familial
RS2525537394 NCSTN Health Risk Pathogenic —
RS2525541080 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2525544478 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2525544932 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2525546306 DMD Health Risk Likely pathogenic —
RS2525547635 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2525547933 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2525548207 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2525554035 ARID1A Health Risk Pathogenic Intellectual disability, autosomal dominant 14
RS2525556760 ARID1A Health Risk Pathogenic Intellectual disability, autosomal dominant 14
RS2525557872 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS2525557943 CPT2 Health Risk Likely pathogenic Encephalopathy, acute
RS2525558003 CPT2 Health Risk Pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS2525558154 CPT2 Health Risk Pathogenic/Likely pathogenic Encephalopathy, acute
RS2525558408 CPT2 Health Risk Likely pathogenic Encephalopathy, acute
RS2525558524 CPT2 Health Risk Likely pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS2525558530 CPT2 Health Risk Likely pathogenic Carnitine palmitoyl transferase II deficiency, severe infantile form
RS2525558778 ALG13 Health Risk Likely pathogenic Seizure, Seizure
RS2525558964 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS2525559133 NTRK1 Health Risk Likely pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS2525562224 ARID1A Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2525563601 ARID1A Health Risk Pathogenic Intellectual disability, autosomal dominant 14
RS2525566830 CPT2 Health Risk Likely pathogenic Carnitine palmitoyl transferase II deficiency, severe infantile form
RS2525566859 CPT2 Health Risk Likely pathogenic Encephalopathy, acute
RS2525570159 CPT2 Health Risk Pathogenic/Likely pathogenic Carnitine palmitoyltransferase II deficiency, Encephalopathy
RS2525570359 CPT2 Health Risk Likely pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyl transferase II deficiency
RS2525572000 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2525572068 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2525572091 NTRK1 Health Risk Pathogenic Hereditary insensitivity to pain with anhidrosis, Hereditary insensitivity to pain with anhidrosis
RS2525572504 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2525572808 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2525573834 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2525573866 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2525574054 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2525574078 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2525574376 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2525578020 ACADM Health Risk Pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2525578148 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2525578274 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2525578687 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2525581300 COL11A1 Health Risk Pathogenic Stickler syndrome type 2, Stickler syndrome type 2
RS2525581969 COL11A1 Health Risk Pathogenic —
RS2525586682 CPT2 Health Risk Pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS2525586702 ACADM Health Risk Likely pathogenic Medium-chain acyl-coenzyme A dehydrogenase deficiency, Medium-chain acyl-coenzyme A dehydrogenase deficiency
RS2525587268 CPT2 Health Risk Pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS2525587370 CPT2 Health Risk Pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS2525587684 CPT2 Health Risk Likely pathogenic Encephalopathy, acute
RS2525587773 CPT2 Health Risk Pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS2525588396 CPT2 Health Risk Pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS2525588808 CPT2 Health Risk Pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS2525588822 CPT2 Health Risk Pathogenic/Likely pathogenic Carnitine palmitoyltransferase II deficiency, Encephalopathy
RS2525588857 CPT2 Health Risk Pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
RS2525589156 CPT2 Health Risk Likely pathogenic Encephalopathy, acute
RS2525589330 CPT2 Health Risk Likely pathogenic —
RS2525589533 CPT2 Health Risk Pathogenic Carnitine palmitoyltransferase II deficiency, Carnitine palmitoyltransferase II deficiency
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