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
RS2467778285 GLI2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2467778927 GLI2 Health Risk Pathogenic Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
RS2467786089 GLI2 Health Risk Likely pathogenic Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome, Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
RS2467811607 BCKDHA Health Risk Likely pathogenic Maple syrup urine disease type 1A, Maple syrup urine disease type 1A
RS2467827 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Congenital hypothyroidism
RS2467828 DUOX2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS2467829 DUOX2;DUOXA2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS2467829039 EXOC6B Health Risk Likely pathogenic Spondyloepimetaphyseal dysplasia with joint laxity, type 3
RS2467829103 KYNU Health Risk Pathogenic Vertebral, cardiac
RS2467830 DUOX2;DUOXA2 Health Risk Conflicting classifications of pathogenicity Thyroid dyshormonogenesis 6, Thyroid dyshormonogenesis 6
RS2467838286 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS2467838766 SCN2A Health Risk Pathogenic Non-syndromic intellectual disability, Non-syndromic intellectual disability
RS2467839682 KYNU Health Risk Likely pathogenic KYNU-related disorder, KYNU-related disorder
RS2467844829 SCN2A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 11
RS2467855307 GALNT3 Health Risk Pathogenic —
RS2467861939 GALNT3 Health Risk Likely pathogenic —
RS2467862069 GALNT3 Health Risk Pathogenic —
RS2467866387 GALNT3 Health Risk Pathogenic —
RS2467866643 ORC4 Health Risk Pathogenic —
RS2467867016 GALNT3 Health Risk Pathogenic —
RS2467868320 SCN9A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 7
RS2467868574 SCN9A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 7
RS2467868979 SCN9A Health Risk Pathogenic Channelopathy-associated congenital insensitivity to pain, autosomal recessive
RS2467869449 GALNT3 Health Risk Pathogenic —
RS2467869522 GALNT3 Health Risk Pathogenic —
RS2467869707 GALNT3 Health Risk Pathogenic —
RS2467871068 GALNT3 Health Risk Pathogenic —
RS2467871379 GALNT3 Health Risk Likely pathogenic —
RS2467875330 GALNT3 Health Risk Likely pathogenic —
RS2467875895 GALNT3 Health Risk Pathogenic —
RS2467880808 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS2467880827 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS2467884030 SCN2A Health Risk Likely pathogenic —
RS2467886070 SCN2A Health Risk Likely pathogenic SCN2A-related disorder, SCN2A-related disorder
RS2467886849 SCN2A Health Risk Likely pathogenic SCN2A-related disorder, SCN2A-related disorder
RS2467887062 SCN2A Health Risk Likely pathogenic SCN2A-related disorder, SCN2A-related disorder
RS2467889965 GALNT3 Health Risk Pathogenic/Likely pathogenic Tumoral calcinosis, hyperphosphatemic
RS2467890125 SCN2A Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 11
RS2467890178 SCN2A Health Risk Likely pathogenic Inborn genetic diseases, Seizures
RS2467890286 SCN2A Health Risk Likely pathogenic SCN2A-related disorder, SCN2A-related disorder
RS2467890308 GALNT3 Health Risk Pathogenic —
RS2467890325 SCN2A Health Risk Likely pathogenic Episodic ataxia, type 9
RS2467890450 SCN2A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 11
RS2467890573 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS2467895421 SCN2A Health Risk Likely pathogenic SCN2A-related disorder, SCN2A-related disorder
RS2467895577 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS2467901322 SCN2A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 11
RS2467902376 SCN2A Health Risk Pathogenic Epileptic encephalopathy, infantile or early childhood
RS2467902405 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS2467902634 SCN2A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 11
RS2467908837 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS2467909264 SCN2A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 11
RS2467933218 SCN2A Health Risk Likely pathogenic Seizures, benign familial infantile
RS2467933285 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS2467933702 SCN2A Health Risk Pathogenic Autism spectrum disorder, Autism spectrum disorder
RS2467933997 SCN2A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 11
RS2467934185 SCN2A Health Risk Likely pathogenic Episodic ataxia, type 9
RS2467934367 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS2467934415 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS2467946472 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS2467961545 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS2467961829 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS2467961957 SCN2A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 11
RS2467962097 SCN2A Health Risk Likely pathogenic —
RS2467962102 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS2467962268 SCN2A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2467982175 SCN9A Health Risk Likely pathogenic Neuropathy, hereditary sensory and autonomic
RS2467986204 SCN9A Health Risk Likely pathogenic Neuropathy, hereditary sensory and autonomic
RS2467990507 BUB1 Health Risk Pathogenic Microcephaly 30, primary
RS2467999094 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS2467999221 SCN2A Health Risk Likely pathogenic SCN2A-related disorder, SCN2A-related disorder
RS2467999322 SCN2A Health Risk Pathogenic Seizures, benign familial infantile
RS2468003378 SCN9A Health Risk Likely pathogenic Primary erythromelalgia, Primary erythromelalgia
RS2468007402 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS2468007693 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS2468008210 SCN2A Health Risk Likely pathogenic SCN2A-related disorder, SCN2A-related disorder
RS2468008251 SCN2A Health Risk Likely pathogenic Infantile spasms, Infantile spasms
RS2468008256 SCN2A Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2468008587 SCN2A Health Risk Likely pathogenic Epilepsy of infancy with migrating focal seizures, Epilepsy of infancy with migrating focal seizures
RS2468008617 ORC4 Health Risk Pathogenic —
RS2468008621 SCN2A Health Risk Likely pathogenic benign sporadic neonatal-infantile epilepsy, benign sporadic neonatal-infantile epilepsy
RS2468009874 KYNU Health Risk Pathogenic —
RS2468017329 BUB1 Health Risk Conflicting classifications of pathogenicity —
RS2468019480 SCN9A Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS2468024409 SCN9A Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS2468024864 SCN9A Health Risk Likely pathogenic Channelopathy-associated congenital insensitivity to pain, autosomal recessive
RS2468033187 BBS5 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2468033258 BBS5 Health Risk Likely pathogenic Bardet-Biedl syndrome 5, Bardet-Biedl syndrome 5
RS2468034593 SCN9A Health Risk Pathogenic Generalized epilepsy with febrile seizures plus, type 7
RS2468035550 SCN2A Health Risk Likely pathogenic Seizures, benign familial infantile
RS2468035572 SCN2A Health Risk Likely pathogenic Seizures, benign familial infantile
RS2468035584 SCN2A Health Risk Likely pathogenic SCN2A-related disorder, SCN2A-related disorder
RS2468035649 SCN2A Health Risk Pathogenic Developmental and epileptic encephalopathy, 11
RS2468036301 SCN2A Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2468036514 BBS5 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2468036567 BBS5 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2468037280 BBS5 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2468039380 SCN9A Health Risk Likely pathogenic Neuropathy, hereditary sensory and autonomic
RS2468039852 SCN9A Health Risk Pathogenic Neuropathy, hereditary sensory and autonomic
RS2468040256 ERCC3 Health Risk Pathogenic —
« Prev 1 ... 1997 1998 1999 2000 2001 2002 2003 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →