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
RS2520939412 FRMD7 Health Risk Pathogenic —
RS2520942552 SMC1A Health Risk Pathogenic Seizure, Seizure
RS2520942867 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS2520943061 GLA Health Risk Likely pathogenic Fabry disease, Fabry disease
RS2520943549 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS2520943698 GLA Health Risk Pathogenic/Likely pathogenic Fabry disease, Fabry disease
RS2520944818 SMC1A Health Risk Pathogenic/Likely pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS2520944908 GLA Health Risk Pathogenic Fabry disease, Fabry disease
RS2520945062 SMC1A Health Risk Likely pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS2520948481 LAMP2 Health Risk Likely pathogenic Danon disease, Danon disease
RS2520950239 L1CAM Health Risk Pathogenic L1 syndrome, L1 syndrome
RS2520955163 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2520955210 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2520955229 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2520955627 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2520955846 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2520956160 L1CAM Health Risk Likely pathogenic X-linked complicated corpus callosum dysgenesis, X-linked complicated corpus callosum dysgenesis
RS2520956366 L1CAM Health Risk Likely pathogenic L1 syndrome, L1 syndrome
RS2520956405 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2520956488 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2520956506 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2520957514 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2520957861 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS2520957938 SMC1A Health Risk Conflicting classifications of pathogenicity Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS2520958047 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS2520958208 SMC1A Health Risk Likely pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS2520960421 L1CAM Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2520960923 SMC1A Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 85
RS2520961299 L1CAM Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2520962727 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2520963220 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS2520965527 L1CAM Health Risk Likely pathogenic X-linked hydrocephalus syndrome, MASA syndrome
RS2520965602 L1CAM Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2520965630 CACNA1F Health Risk Pathogenic/Likely pathogenic X-linked cone-rod dystrophy 3, X-linked cone-rod dystrophy 3
RS2520966032 L1CAM Health Risk Likely pathogenic Spastic paraplegia, Thyroid cancer
RS2520967604 L1CAM Health Risk Likely pathogenic L1CAM-related disorder, L1CAM-related disorder
RS2520968443 CACNA1F Health Risk Likely pathogenic Congenital stationary night blindness 2A, Congenital stationary night blindness 2A
RS2520969372 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS2520970378 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Developmental and epileptic encephalopathy
RS2520970438 SMC1A Health Risk Likely pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS2520970677 L1CAM Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2520970863 SMC1A Health Risk Pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS2520971102 SMC1A Health Risk Likely pathogenic Congenital muscular hypertrophy-cerebral syndrome, Congenital muscular hypertrophy-cerebral syndrome
RS2520971808 L1CAM Health Risk Likely pathogenic L1CAM-related disorder, L1CAM-related disorder
RS2520972097 L1CAM Health Risk Likely pathogenic X-linked hydrocephalus syndrome, MASA syndrome
RS2520974756 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2520975471 PCDH19 Health Risk Pathogenic —
RS2520975522 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2520975681 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2520975915 L1CAM Health Risk Likely pathogenic X-linked hydrocephalus syndrome, X-linked hydrocephalus syndrome
RS2520976154 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2520977329 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2520977730 L1CAM Health Risk Likely pathogenic Spastic paraplegia, Thyroid cancer
RS2520977899 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2520978436 PCDH19 Health Risk Pathogenic Seizure, Seizure
RS2520978838 L1CAM Health Risk Likely pathogenic L1 syndrome, L1 syndrome
RS2520978927 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2520979216 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2520979309 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2520980831 FGF13 Health Risk Pathogenic Developmental and epileptic encephalopathy, 90
RS2520981115 FGF13 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 90
RS2520981153 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2520981613 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2520982008 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2520982209 PCDH19 Health Risk Pathogenic —
RS2520982829 PCDH19 Health Risk Pathogenic Seizure, Seizure
RS2520982994 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2520983286 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2520983300 PCDH19 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 9
RS2520983929 HNRNPH2 Health Risk Likely pathogenic Intellectual disability, X-linked
RS2520984160 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2520984330 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2520984340 L1CAM Health Risk Likely pathogenic X-linked hydrocephalus syndrome, X-linked hydrocephalus syndrome
RS2520984740 PCDH19 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 9
RS2520984807 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2520984887 HNRNPH2 Health Risk Likely pathogenic Intellectual disability, X-linked
RS2520984951 PCDH19 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 9
RS2520985089 HNRNPH2 Health Risk Likely pathogenic —
RS2520985191 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2520985267 L1CAM Health Risk Pathogenic X-linked hydrocephalus syndrome, X-linked hydrocephalus syndrome
RS2520985398 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2520985599 L1CAM Health Risk Likely pathogenic L1 syndrome, L1 syndrome
RS2520986268 L1CAM Health Risk Likely pathogenic X-linked hydrocephalus syndrome, X-linked hydrocephalus syndrome
RS2520986296 L1CAM Health Risk Pathogenic L1CAM-related disorder, L1CAM-related disorder
RS2520986490 PCDH19 Health Risk Likely pathogenic See cases, See cases
RS2520986912 PCDH19 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 9
RS2520987109 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2520987216 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2520987307 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2520987424 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2520988188 PCDH19 Health Risk Pathogenic Seizure, Seizure
RS2520989037 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2520989245 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2520989896 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2520990423 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2520992622 PCDH19 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2520993118 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2520993527 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2520993634 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
RS2520993906 PCDH19 Health Risk Pathogenic Developmental and epileptic encephalopathy, 9
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