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
RS2105200537 IFIH1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Singleton-Merten syndrome 1
RS2105207249 NRXN1 Health Risk Pathogenic Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS2105222752 LRP1B Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2105223358 LRP1B Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2105226927 SCN9A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 7
RS2105241166 SPR Health Risk Pathogenic Dopa-responsive dystonia due to sepiapterin reductase deficiency, Dystonic disorder
RS2105241347 SCN2A Health Risk Likely pathogenic —
RS2105241466 SCN2A Health Risk Pathogenic —
RS2105243192 SPR Health Risk Likely pathogenic Dystonic disorder, Dopa-responsive dystonia due to sepiapterin reductase deficiency
RS2105243497 SCN2A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 11
RS2105244906 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS2105244912 SCN2A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 11
RS2105245017 SCN2A Health Risk Likely pathogenic Seizures, benign familial infantile
RS2105247122 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, West syndrome
RS2105247156 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS2105247197 SCN2A Health Risk Pathogenic —
RS2105247262 SCN2A Health Risk Pathogenic Benign familial infantile epilepsy, Benign familial infantile epilepsy
RS2105247288 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS2105247310 SCN2A Health Risk Likely pathogenic —
RS2105247416 SCN2A Health Risk Pathogenic West syndrome, West syndrome
RS2105247434 SCN2A Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS2105251415 SCN2A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 11
RS2105251438 SCN2A Health Risk Pathogenic See cases, Seizures
RS2105251544 SCN2A Health Risk Likely pathogenic —
RS2105255370 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS2105255398 SCN2A Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 11
RS2105255410 SCN2A Health Risk Conflicting classifications of pathogenicity Hemiplegia/hemiparesis, Inborn genetic diseases
RS2105255430 SCN2A Health Risk Likely pathogenic Seizures, benign familial infantile
RS2105255869 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS2105255913 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, West syndrome
RS2105259429 ORC4 Health Risk Likely pathogenic Meier-Gorlin syndrome 2, Meier-Gorlin syndrome 2
RS2105259560 SCN2A Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2105259671 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS2105259788 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS2105259847 SCN2A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, Generalized epilepsy with febrile seizures plus
RS2105272332 LRP2 Health Risk Pathogenic —
RS2105275776 TTC21B Health Risk Likely pathogenic —
RS2105276037 LRP2 Health Risk Pathogenic —
RS2105276746 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS2105276771 SCN2A Health Risk Pathogenic Benign familial infantile epilepsy, Benign familial infantile epilepsy
RS2105276912 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS2105277203 SCN2A Health Risk Pathogenic See cases, See cases
RS2105278194 TBR1 Health Risk Pathogenic See cases, Intellectual developmental disorder with autism and speech delay
RS2105278359 TBR1 Health Risk Pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2105278575 LRP2 Health Risk Likely pathogenic —
RS2105278913 TBR1 Health Risk Likely pathogenic —
RS2105279320 TBR1 Health Risk Pathogenic Intellectual developmental disorder with autism and speech delay, Intellectual developmental disorder with autism and speech delay
RS2105280445 TBR1 Health Risk Pathogenic Intellectual developmental disorder with autism and speech delay, Intellectual developmental disorder with autism and speech delay
RS2105280472 TBR1 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder, Intellectual developmental disorder with autism and speech delay
RS2105282575 TBR1 Health Risk Pathogenic —
RS2105284299 SCN2A Health Risk Pathogenic —
RS2105290053 BBS5 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2105291679 TTC21B Health Risk Pathogenic Jeune thoracic dystrophy, Nephronophthisis
RS2105291727 TTC21B Health Risk Pathogenic Nephronophthisis, Jeune thoracic dystrophy
RS2105291750 BBS5 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2105291970 TTC21B Health Risk Pathogenic Asphyxiating thoracic dystrophy 4, Nephronophthisis 12
RS2105291990 TTC21B Health Risk Pathogenic Jeune thoracic dystrophy, Nephronophthisis
RS2105292022 TTC21B Health Risk Pathogenic Nephronophthisis, Jeune thoracic dystrophy
RS2105292027 TTC21B Health Risk Pathogenic Nephronophthisis, Jeune thoracic dystrophy
RS2105293230 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS2105293298 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS2105297751 BBS5 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2105297825 BBS5 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2105300418 BBS5 Health Risk Pathogenic Bardet-Biedl syndrome, BBS5-related disorder
RS2105300442 BBS5 Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome 5
RS2105303591 BBS5 Health Risk Likely pathogenic Bardet-Biedl syndrome 5, Bardet-Biedl syndrome 5
RS2105304338 BBS5 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2105306744 ORC4 Health Risk Pathogenic —
RS2105309832 KLHL41 Health Risk Pathogenic Nemaline myopathy 9, Nemaline myopathy 9
RS2105312506 KLHL41 Health Risk Pathogenic Nemaline myopathy 9, Nemaline myopathy 9
RS2105312600 KLHL41 Health Risk Pathogenic Nemaline myopathy 9, Nemaline myopathy 9
RS2105314804 SCN2A Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS2105317922 NRXN1 Health Risk Pathogenic Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS2105318789 SCN2A Health Risk Conflicting classifications of pathogenicity Seizures, benign familial infantile
RS2105318837 SCN2A Health Risk Likely pathogenic Seizures, benign familial infantile
RS2105319097 SCN2A Health Risk Likely pathogenic —
RS2105319167 SCN2A Health Risk Likely pathogenic Benign familial infantile epilepsy, Seizures
RS2105319172 SCN2A Health Risk Likely pathogenic Seizures, benign familial infantile
RS2105319200 SCN2A Health Risk Likely pathogenic Seizures, benign familial infantile
RS2105319230 SCN2A Health Risk Likely pathogenic Seizures, benign familial infantile
RS2105324384 TTC21B Health Risk Pathogenic Jeune thoracic dystrophy, Nephronophthisis
RS2105326044 LRP2 Health Risk Pathogenic Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS2105327752 LRP2 Health Risk Pathogenic —
RS2105329247 TTC21B Health Risk Pathogenic/Likely pathogenic Nephronophthisis 12, Asphyxiating thoracic dystrophy 4
RS2105329431 LRP2 Health Risk Likely pathogenic Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS2105336790 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS2105336825 SCN2A Health Risk Likely pathogenic Abnormal cerebral morphology, Abnormal cerebral morphology
RS2105336842 SCN2A Health Risk Likely pathogenic Seizures, benign familial infantile
RS2105336868 SCN2A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 11
RS2105337298 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS2105337522 LRP2 Health Risk Likely pathogenic —
RS2105337639 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS2105338187 LRP2 Health Risk Pathogenic —
RS2105343139 TTC21B Health Risk Pathogenic Jeune thoracic dystrophy, Nephronophthisis
RS2105343563 LRP2 Health Risk Likely pathogenic —
RS2105344238 NRXN1 Health Risk Likely pathogenic Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS2105344578 TTC21B Health Risk Pathogenic Nephronophthisis, Asphyxiating thoracic dystrophy 4
RS2105344608 TTC21B Health Risk Pathogenic Jeune thoracic dystrophy, Nephronophthisis
RS2105348555 LRP2 Health Risk Pathogenic —
RS2105348670 LRP2 Health Risk Likely pathogenic Donnai-Barrow syndrome, Donnai-Barrow syndrome
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