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
RS1697775287 SLC6A1 Health Risk Pathogenic/Likely pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS1697775354 SLC6A1 Health Risk Pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS1697801738 TTN Health Risk Conflicting classifications of pathogenicity —
RS1697820592 GRM7 Health Risk Pathogenic Bilateral multifocal epileptiform discharges, Global developmental delay
RS1697846493 ADAR Health Risk Pathogenic —
RS16978578 LOXHD1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive nonsyndromic hearing loss 77, Autosomal recessive nonsyndromic hearing loss 77
RS1697861124 ADAR Health Risk Likely pathogenic —
RS1697876590 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1697877323 SCN1A Health Risk Conflicting classifications of pathogenicity Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS1697890809 TTN Health Risk Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS1697891755 SLC6A1 Health Risk Likely pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS1697892980 SCN1A Health Risk Conflicting classifications of pathogenicity Epilepsy, Early-infantile DEE
RS1697893468 SLC6A1 Health Risk Conflicting classifications of pathogenicity Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS1697904829 SCN1A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1697919506 TGFBR2 Health Risk Conflicting classifications of pathogenicity Loeys-Dietz syndrome 2, Diabetic retinopathy
RS1697927783 PJVK Health Risk Pathogenic —
RS1697931973 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Diabetic retinopathy
RS1697933766 TGFBR2 Health Risk Uncertain significance/Uncertain risk allele Familial thoracic aortic aneurysm and aortic dissection, Diabetic retinopathy
RS1697960433 TRAF3IP1 Health Risk Pathogenic —
RS16979773 ERCC2 Health Risk Conflicting classifications of pathogenicity Xeroderma pigmentosum, group D
RS1697980483 TRAF3IP1 Health Risk Pathogenic —
RS1697992162 TRAF3IP1 Health Risk Pathogenic —
RS1697995660 SCN1A Health Risk Likely pathogenic —
RS1697996396 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1697997770 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS1697998080 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1697998959 SCN1A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS1697999557 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1698001843 SCN1A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1698002491 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1698003832 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1698004184 SCN1A Health Risk Pathogenic/Likely pathogenic Severe myoclonic epilepsy in infancy, Generalized epilepsy with febrile seizures plus
RS1698007004 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1698009615 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS1698009919 LARS2 Health Risk Pathogenic Perrault syndrome 4, Perrault syndrome 4
RS1698019472 SLC6A1 Health Risk Conflicting classifications of pathogenicity Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS1698021918 SCN1A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS1698023156 SLC6A1 Health Risk Pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS1698023649 SLC6A1 Health Risk Pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS1698033637 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS1698067665 SLC6A1 Health Risk Pathogenic SLC6A1-related disorder, Epilepsy with myoclonic atonic seizures
RS1698067782 SLC6A1 Health Risk Likely pathogenic Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS1698067880 SLC6A1 Health Risk Pathogenic Intellectual disability, Epilepsy with myoclonic atonic seizures
RS1698164249 SLC6A1 Health Risk Conflicting classifications of pathogenicity Epilepsy with myoclonic atonic seizures, Epilepsy with myoclonic atonic seizures
RS1698166561 SCN2A Health Risk Pathogenic Intellectual disability, Seizures
RS1698169393 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1698169832 SCN2A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1698170849 SCN1A Health Risk Pathogenic Migraine, familial hemiplegic
RS1698176171 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1698186316 SCN1A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS1698192456 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1698195483 TRAF3IP1 Health Risk Pathogenic —
RS1698198046 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1698201730 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1698219355 SCN9A Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 7
RS1698314043 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS1698348226 POC1A Health Risk Pathogenic Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome, Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
RS1698355880 CPS1 Health Risk Pathogenic/Likely pathogenic Congenital hyperammonemia, type I
RS1698356763 SATB1 Health Risk Conflicting classifications of pathogenicity Developmental delay with dysmorphic facies and dental anomalies, Developmental delay with dysmorphic facies and dental anomalies
RS1698357897 CPS1 Health Risk Pathogenic Congenital hyperammonemia, type I
RS1698403157 ZBTB18 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 22
RS1698413680 ZBTB18 Health Risk Pathogenic —
RS1698415634 ZBTB18 Health Risk Pathogenic Intellectual disability, autosomal dominant 22
RS1698424563 ZBTB18 Health Risk Conflicting classifications of pathogenicity Intellectual disability, autosomal dominant 22
RS1698428230 ZBTB18 Health Risk Pathogenic Intellectual disability, autosomal dominant 22
RS1698428309 ZBTB18 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 22
RS1698429114 ZBTB18 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 22
RS1698434416 ZBTB18 Health Risk Likely pathogenic —
RS1698434969 ZBTB18 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 22
RS1698436913 ZBTB18 Health Risk Likely pathogenic Neurodevelopmental abnormality, Neurodevelopmental abnormality
RS1698437148 ZBTB18 Health Risk Pathogenic/Likely pathogenic Intellectual disability, autosomal dominant 22
RS1698439878 ZBTB18 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1698484511 TRAF3IP1 Health Risk Pathogenic —
RS1698574524 SCN1A Health Risk Likely pathogenic Migraine, familial hemiplegic
RS1698593264 SCN1A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS1698596974 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS1698600051 TTN Health Risk Pathogenic/Likely pathogenic Early-onset myopathy with fatal cardiomyopathy, Cardiovascular phenotype
RS1698602170 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS1698602478 SCN1A Health Risk Pathogenic —
RS1698622742 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS1698631663 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS1698638581 SCN9A Health Risk Pathogenic Primary erythromelalgia, Generalized epilepsy with febrile seizures plus
RS1698664901 SCN2A Health Risk Conflicting classifications of pathogenicity —
RS1698670041 SCN2A Health Risk Likely pathogenic Seizures, benign familial infantile
RS1698674881 SCN2A Health Risk Pathogenic Complex neurodevelopmental disorder, Developmental and epileptic encephalopathy
RS1698686080 CPS1 Health Risk Pathogenic/Likely pathogenic Congenital hyperammonemia, type I
RS1698686495 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS1698701049 TGFBR2 Health Risk Uncertain significance/Uncertain risk allele Familial thoracic aortic aneurysm and aortic dissection, Loeys-Dietz syndrome 2
RS1698732089 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS1698733988 SCN9A Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 7
RS1698734900 GLB1 Health Risk Pathogenic Mucopolysaccharidosis, MPS-IV-B
RS1698735097 GLB1 Health Risk Likely pathogenic —
RS1698747852 SCN1A Health Risk Likely pathogenic Generalized epilepsy with febrile seizures plus, type 2
RS1698754274 CPS1 Health Risk Likely pathogenic Congenital hyperammonemia, type I
RS1698779595 SCN9A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 7
RS1698781465 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS1698815023 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS1698824634 TTN Health Risk Likely pathogenic —
RS1698856374 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Diabetic retinopathy
RS1698857092 TGFBR2 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Diabetic retinopathy
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