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
RS1555850590 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1555850609 SALL4 Health Risk Pathogenic —
RS1555850842 KCNQ2 Health Risk Pathogenic Epileptic encephalopathy, KCNQ2-related disorder
RS1555850868 KCNQ2 Health Risk Pathogenic Inborn genetic diseases, KCNQ2-related disorder
RS1555850961 SALL4 Health Risk Pathogenic Duane-radial ray syndrome, Duane-radial ray syndrome
RS1555851216 ZNF335 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555851513 KCNQ2 Health Risk Pathogenic —
RS1555851516 KCNQ2 Health Risk Pathogenic —
RS1555853524 KCNQ2 Health Risk Likely pathogenic —
RS1555853549 KCNQ2 Health Risk Pathogenic —
RS1555853593 KCNQ2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 7
RS1555853970 KCNQ2 Health Risk Conflicting classifications of pathogenicity Seizures, benign familial neonatal
RS1555853971 KCNQ2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 7
RS1555853977 KCNQ2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 7
RS1555853999 COL18A1 Health Risk Conflicting classifications of pathogenicity —
RS1555854643 KCNQ2 Health Risk Pathogenic —
RS1555855228 TNNT1 Health Risk Likely pathogenic Nemaline myopathy 5, Nemaline myopathy 5
RS1555859144 ATP1A3 Health Risk Pathogenic —
RS1555859150 ATP1A3 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Dystonia 12
RS1555859157 ATP1A3 Health Risk Pathogenic Inborn genetic diseases, Dystonia 12
RS1555859304 TNNT1 Health Risk Pathogenic Nemaline myopathy 5, Nemaline myopathy 5
RS1555859571 ATP1A3 Health Risk Pathogenic/Likely pathogenic Dystonia 12, Dystonia 12
RS1555859593 ATP1A3 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555859876 TNNT1 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 5, Inborn genetic diseases
RS1555860555 COL18A1 Health Risk Pathogenic Knobloch syndrome, Knobloch syndrome
RS1555860693 KCNQ2 Health Risk Likely pathogenic —
RS1555860861 ATP1A3 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Dystonia 12
RS1555861946 ATP1A3 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Inborn genetic diseases
RS1555862098 ATP1A3 Health Risk Conflicting classifications of pathogenicity Alternating hemiplegia of childhood 2, Alternating hemiplegia of childhood 2
RS1555863145 SLC12A5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 34
RS1555863593 SLC12A5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 34
RS1555863623 ATP1A3 Health Risk Pathogenic Alternating hemiplegia of childhood 2, Alternating hemiplegia of childhood 2
RS1555863693 ATP1A3 Health Risk Pathogenic Dystonia 12, Developmental and epileptic encephalopathy 99
RS1555863715 TNNI3 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS1555865385 ATP1A3 Health Risk Pathogenic/Likely pathogenic Dystonia 12, ATP1A3-associated neurological disorder
RS1555865401 ATP1A3 Health Risk Pathogenic/Likely pathogenic Juvenile onset psychosis, Dystonia 12
RS1555866356 ATP1A3 Health Risk Conflicting classifications of pathogenicity Dystonia 12, Dystonia 12
RS1555868362 GNAS Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555868402 SLC12A5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 34
RS1555869700 KCNQ2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 7
RS1555869758 KCNQ2 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Early-infantile DEE
RS1555869796 KCNQ2 Health Risk Pathogenic —
RS1555869803 KCNQ2 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1555869934 CBS Health Risk Likely pathogenic Classic homocystinuria, Classic homocystinuria
RS1555869958 CBS Health Risk Pathogenic Classic homocystinuria, HYPERHOMOCYSTEINEMIA
RS1555869979 CBS Health Risk Likely pathogenic Classic homocystinuria, HYPERHOMOCYSTEINEMIA
RS1555870346 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1555870470 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1555870506 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1555870554 KCNQ2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 7
RS1555870809 COL18A1 Health Risk Pathogenic Retinal dystrophy, Knobloch syndrome
RS1555871095 CBS Health Risk Likely pathogenic Classic homocystinuria, Classic homocystinuria
RS1555871188 CBS Health Risk Pathogenic Classic homocystinuria, HYPERHOMOCYSTEINEMIA
RS1555871390 COL6A2 Health Risk Pathogenic —
RS1555871777 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS1555871832 KCNQ2 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 7
RS1555871853 KCNQ2 Health Risk Pathogenic —
RS1555871862 KCNQ2 Health Risk Likely pathogenic —
RS1555871902 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS1555871915 KCNQ2 Health Risk Likely pathogenic KCNQ2-related disorder, KCNQ2-related disorder
RS1555871928 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS1555872060 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS1555872143 COL6A2 Health Risk Pathogenic —
RS1555872200 COL6A2 Health Risk Pathogenic —
RS1555872272 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS1555872755 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS1555872787 CBS Health Risk Likely pathogenic Classic homocystinuria, Classic homocystinuria
RS1555872819 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS1555872873 COL6A2 Health Risk Pathogenic/Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS1555872879 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS1555872965 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Inborn genetic diseases
RS1555872988 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS1555872997 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS1555873084 COL6A2 Health Risk Pathogenic Inborn genetic diseases, Bethlem myopathy 1A
RS1555873087 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS1555873118 AIRE Health Risk Pathogenic —
RS1555873248 AIRE Health Risk Likely pathogenic Polyglandular autoimmune syndrome, type 1
RS1555873353 COL6A2 Health Risk Likely pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS1555873356 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1B
RS1555873358 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS1555873507 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Abnormality of the musculature
RS1555873508 COL6A2 Health Risk Pathogenic Bethlem myopathy 1A, Bethlem myopathy 1A
RS1555873650 AIRE Health Risk Pathogenic Polyglandular autoimmune syndrome, type 1
RS1555873656 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1555873665 KCNQ2 Health Risk Likely pathogenic Complex neurodevelopmental disorder, Early-infantile DEE
RS1555873683 KCNQ2 Health Risk Pathogenic —
RS1555873698 COL6A2 Health Risk Likely pathogenic —
RS1555873790 KCNQ2 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Seizure
RS1555873813 KCNQ2 Health Risk Pathogenic —
RS1555873823 KCNQ2 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1555873925 CBS Health Risk Likely pathogenic Classic homocystinuria, Classic homocystinuria
RS1555873939 KCNQ2 Health Risk Likely pathogenic —
RS1555873981 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1555873982 KCNQ2 Health Risk Likely pathogenic Neonatal encephalopathy, Neonatal encephalopathy
RS1555873985 KCNQ2 Health Risk Pathogenic/Likely pathogenic Seizures, benign familial neonatal
RS1555874020 KCNQ2 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1555874121 CBS Health Risk Likely pathogenic Classic homocystinuria, HYPERHOMOCYSTEINEMIA
RS1555874263 CBS Health Risk Likely pathogenic Classic homocystinuria, Classic homocystinuria
RS1555874527 COL18A1 Health Risk Pathogenic —
RS1555874538 COL18A1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
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