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
RS2468041377 SCN9A Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS2468041599 BBS5 Health Risk Pathogenic Bardet-Biedl syndrome 5, Bardet-Biedl syndrome 5
RS2468042346 BBS5 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2468042360 BBS5 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2468044149 CTNNA2 Health Risk Pathogenic Cortical dysplasia, complex
RS2468046869 RAB3GAP1 Health Risk Pathogenic —
RS2468048552 BBS5 Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome, Bardet-Biedl syndrome 5
RS2468048933 SCN9A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2468052782 ERCC3 Health Risk Pathogenic —
RS2468054831 KLHL41 Health Risk Pathogenic Nemaline myopathy 9, Nemaline myopathy 9
RS2468055079 SCN3A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 62
RS2468055198 KLHL41 Health Risk Pathogenic Nemaline myopathy 9, Nemaline myopathy 9
RS2468055654 KLHL41 Health Risk Likely pathogenic Nemaline myopathy 9, Nemaline myopathy 9
RS2468056985 ERCC3 Health Risk Pathogenic —
RS2468057422 ERCC3 Health Risk Pathogenic —
RS2468059698 KLHL41 Health Risk Pathogenic Nemaline myopathy 9, Nemaline myopathy 9
RS2468060212 CNGA3 Health Risk Pathogenic —
RS2468060681 CNGA3 Health Risk Likely pathogenic Achromatopsia, Achromatopsia
RS2468061015 CNGA3 Health Risk Pathogenic —
RS2468061249 SCN2A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 11
RS2468062223 KLHL41 Health Risk Pathogenic Nemaline myopathy 9, Nemaline myopathy 9
RS2468067609 SCN9A Health Risk Pathogenic Channelopathy-associated congenital insensitivity to pain, autosomal recessive
RS2468067807 ERCC3 Health Risk Pathogenic —
RS2468067820 NRXN1 Health Risk Pathogenic Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS2468070154 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS2468070263 ATM Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2468070549 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS2468070622 ERCC3 Health Risk Pathogenic —
RS2468070901 ERCC3 Health Risk Pathogenic —
RS2468073904 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468075442 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468075934 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468076244 NRXN1 Health Risk Pathogenic Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS2468077663 SCN1A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2468078236 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS2468079150 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468080032 SCN1A Health Risk Pathogenic —
RS2468080465 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS2468080963 NRXN1 Health Risk Pathogenic Pitt-Hopkins-like syndrome 2, Pitt-Hopkins-like syndrome 2
RS2468081162 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468081385 SCN1A Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS2468081499 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468081746 SCN2A Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2468082494 SCN2A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 11
RS2468082519 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS2468089980 TBR1 Health Risk Likely pathogenic —
RS2468090210 TBR1 Health Risk Pathogenic Intellectual developmental disorder with autism and speech delay, Intellectual developmental disorder with autism and speech delay
RS2468090214 TBR1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2468090604 TBR1 Health Risk Pathogenic Intellectual developmental disorder with autism and speech delay, Intellectual developmental disorder with autism and speech delay
RS2468090945 TBR1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2468090992 TBR1 Health Risk Likely pathogenic Intellectual developmental disorder with autism and speech delay, Intellectual developmental disorder with autism and speech delay
RS2468091705 TBR1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2468091740 TBR1 Health Risk Likely pathogenic TBR1-related disorder, TBR1-related disorder
RS2468092731 TBR1 Health Risk Likely pathogenic —
RS2468093706 TBR1 Health Risk Likely pathogenic TBR1-related disorder, TBR1-related disorder
RS2468093812 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468093865 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468093926 TBR1 Health Risk Pathogenic Intellectual developmental disorder with autism and speech delay, Intellectual developmental disorder with autism and speech delay
RS2468094144 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468095250 TBR1 Health Risk Conflicting classifications of pathogenicity Intellectual developmental disorder with autism and speech delay, Intellectual developmental disorder with autism and speech delay
RS2468095650 SCN1A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2468095824 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2468095855 SCN1A Health Risk Pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS2468096010 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468096199 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS2468096296 SCN2A Health Risk Likely pathogenic Infantile spasms, Infantile spasms
RS2468096330 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS2468096854 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS2468096951 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468098068 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468098342 SCN1A Health Risk Likely pathogenic Migraine, familial hemiplegic
RS2468098623 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS2468098856 SCN1A Health Risk Pathogenic —
RS2468098872 TBR1 Health Risk Likely pathogenic Intellectual developmental disorder with autism and speech delay, Intellectual developmental disorder with autism and speech delay
RS2468098890 TBR1 Health Risk Pathogenic Intellectual developmental disorder with autism and speech delay, Intellectual developmental disorder with autism and speech delay
RS2468098918 TBR1 Health Risk Likely pathogenic See cases, See cases
RS2468098938 TBR1 Health Risk Pathogenic Intellectual developmental disorder with autism and speech delay, Intellectual developmental disorder with autism and speech delay
RS2468099183 TBR1 Health Risk Likely pathogenic Intellectual developmental disorder with autism and speech delay, Intellectual developmental disorder with autism and speech delay
RS2468099287 TBR1 Health Risk Pathogenic —
RS2468100050 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468101174 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2468101944 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS2468102171 SCN2A Health Risk Likely pathogenic Seizures, benign familial infantile
RS2468102480 SCN2A Health Risk Likely pathogenic Complex neurodevelopmental disorder, Complex neurodevelopmental disorder
RS2468102658 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS2468102901 SCN2A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 11
RS2468104296 TTC21B Health Risk Pathogenic Jeune thoracic dystrophy, Nephronophthisis
RS2468109460 TTC21B Health Risk Pathogenic —
RS2468109553 TTC21B Health Risk Pathogenic Jeune thoracic dystrophy, Nephronophthisis
RS2468112683 SCN1A Health Risk Pathogenic/Likely pathogenic Migraine, familial hemiplegic
RS2468112899 SCN1A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2468113169 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468113896 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468114101 SCN2A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 11
RS2468115555 SCN1A Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2468115612 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2468115658 SCN1A Health Risk Likely pathogenic Severe myoclonic epilepsy in infancy, Severe myoclonic epilepsy in infancy
RS2468115681 SCN1A Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2468122348 TTC21B Health Risk Likely pathogenic Asphyxiating thoracic dystrophy 4, Asphyxiating thoracic dystrophy 4
RS2468125860 AGPS Health Risk Likely pathogenic Rhizomelic chondrodysplasia punctata type 3, Rhizomelic chondrodysplasia punctata type 3
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