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
RS2501978226 SLC7A7 Health Risk Pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2501978400 SLC7A7 Health Risk Pathogenic Lysinuric protein intolerance, Lysinuric protein intolerance
RS2501994331 CHD8 Health Risk Likely pathogenic Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly
RS2501999133 RNF31 Health Risk Pathogenic Immunodeficiency 115 with autoinflammation, Immunodeficiency 115 with autoinflammation
RS2502001713 CHD8 Health Risk Pathogenic Autism spectrum disorder, Autism spectrum disorder
RS2502002296 CHD8 Health Risk Pathogenic Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly
RS2502006766 CHD8 Health Risk Likely pathogenic Intellectual developmental disorder with autism and macrocephaly, Intellectual developmental disorder with autism and macrocephaly
RS2502007325 CHD8 Health Risk Pathogenic —
RS2502007835 CHD8 Health Risk Likely pathogenic —
RS2502043267 NALCN Health Risk Likely pathogenic Congenital contractures of the limbs and face, hypotonia
RS2502043671 NALCN Health Risk Pathogenic —
RS2502050500 COL4A2 Health Risk Likely pathogenic COL4A2-related disorder, COL4A2-related disorder
RS2502056630 COL4A2 Health Risk Pathogenic —
RS2502058890 COL4A2 Health Risk Conflicting classifications of pathogenicity Porencephaly 2, COL4A2-related cerebral small vessel disease
RS2502070822 GRIP1 Health Risk Pathogenic —
RS2502070958 GRIP1 Health Risk Likely pathogenic —
RS2502075796 SPTSSA Health Risk Pathogenic Spastic paraplegia 90A, autosomal dominant
RS2502086109 KDM2B Health Risk Likely pathogenic KDM2B-related disorder, KDM2B-related disorder
RS2502093530 COL4A2 Health Risk Conflicting classifications of pathogenicity —
RS2502095134 COL4A2 Health Risk Pathogenic —
RS2502108340 COL4A2 Health Risk Pathogenic —
RS2502113335 COL4A2 Health Risk Pathogenic —
RS2502113464 COL4A2 Health Risk Pathogenic —
RS2502119435 ATP11A Health Risk Likely pathogenic Hearing loss, autosomal dominant 84
RS2502120134 COL4A2 Health Risk Likely pathogenic COL4A2-related disorder, COL4A2-related disorder
RS2502126925 COL4A2 Health Risk Pathogenic —
RS2502135104 COL4A2 Health Risk Likely pathogenic Porencephaly 2, Porencephaly 2
RS2502136452 ANK2 Health Risk Pathogenic —
RS2502140131 NALCN Health Risk Likely pathogenic Congenital contractures of the limbs and face, hypotonia
RS2502142349 COL4A2 Health Risk Pathogenic —
RS2502153476 COL4A2 Health Risk Pathogenic —
RS2502153510 COL4A2 Health Risk Likely pathogenic Porencephaly 2, Porencephaly 2
RS2502153575 MYH6 Health Risk Pathogenic Hypertrophic cardiomyopathy 14, Hypertrophic cardiomyopathy 14
RS2502154005 COL4A2 Health Risk Likely pathogenic —
RS2502158166 COL4A2 Health Risk Likely pathogenic Porencephaly 2, Porencephaly 2
RS2502163650 COL4A2 Health Risk Conflicting classifications of pathogenicity Bethlem myopathy 2, Porencephaly 2
RS2502163697 COL4A2 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2502178460 COL4A2 Health Risk Conflicting classifications of pathogenicity —
RS2502178507 COL4A2 Health Risk Conflicting classifications of pathogenicity —
RS2502185013 NBEA Health Risk Likely pathogenic Neurodevelopmental disorder with or without early-onset generalized epilepsy, Neurodevelopmental disorder with or without early-onset generalized epilepsy
RS2502185131 COL4A2 Health Risk Likely pathogenic Porencephaly 2, Porencephaly 2
RS2502187066 NBEA Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2502188602 NFKBIA Health Risk Pathogenic Ectodermal dysplasia and immunodeficiency 2, Ectodermal dysplasia and immunodeficiency 2
RS2502188897 NFKBIA Health Risk Pathogenic Ectodermal dysplasia and immunodeficiency 2, Ectodermal dysplasia and immunodeficiency 2
RS2502192999 MYH6 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 14, Hypertrophic cardiomyopathy 14
RS2502193523 MYH6 Health Risk Likely pathogenic Hypoplastic left heart syndrome, Hypoplastic left heart syndrome
RS2502205258 COL4A2 Health Risk Pathogenic —
RS2502206494 COL4A2 Health Risk Likely pathogenic Porencephaly 2, Porencephaly 2
RS2502217439 COL4A2 Health Risk Pathogenic —
RS2502223575 FOXG1 Health Risk Pathogenic —
RS2502223818 FOXG1 Health Risk Likely pathogenic FOXG1 disorder, FOXG1 disorder
RS2502224339 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS2502224438 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS2502224452 FOXG1 Health Risk Likely pathogenic FOXG1-related disorder, FOXG1-related disorder
RS2502224718 FOXG1 Health Risk Likely pathogenic FOXG1 disorder, FOXG1 disorder
RS2502224768 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS2502224855 FOXG1 Health Risk Likely pathogenic FOXG1 disorder, FOXG1 disorder
RS2502224874 FOXG1 Health Risk Likely pathogenic FOXG1 disorder, FOXG1 disorder
RS2502225068 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS2502225186 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS2502225346 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS2502225399 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS2502225592 FOXG1 Health Risk Pathogenic —
RS2502225614 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS2502225623 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS2502225854 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS2502225892 FOXG1 Health Risk Likely pathogenic FOXG1 disorder, FOXG1 disorder
RS2502226006 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS2502226013 FOXG1 Health Risk Likely pathogenic FOXG1 disorder, FOXG1 disorder
RS2502226044 FOXG1 Health Risk Pathogenic —
RS2502226093 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS2502226140 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS2502226243 FOXG1 Health Risk Likely pathogenic FOXG1 disorder, FOXG1 disorder
RS2502226255 FOXG1 Health Risk Likely pathogenic FOXG1 disorder, FOXG1 disorder
RS2502226343 FOXG1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2502226349 FOXG1 Health Risk Likely pathogenic FOXG1 disorder, FOXG1 disorder
RS2502226381 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS2502226571 FOXG1 Health Risk Likely pathogenic FOXG1 disorder, FOXG1 disorder
RS2502226577 FOXG1 Health Risk Likely pathogenic FOXG1 disorder, FOXG1 disorder
RS2502226632 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS2502226684 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS2502226706 FOXG1 Health Risk Likely pathogenic FOXG1 disorder, FOXG1 disorder
RS2502227044 FOXG1 Health Risk Likely pathogenic FOXG1 disorder, FOXG1 disorder
RS2502227068 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS2502227104 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS2502227155 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS2502227229 FOXG1 Health Risk Likely pathogenic FOXG1-related disorder, FOXG1-related disorder
RS2502227247 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS2502227323 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS2502227732 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS2502227748 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS2502228019 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS2502228028 FOXG1 Health Risk Pathogenic —
RS2502228139 FOXG1 Health Risk Pathogenic FOXG1 disorder, FOXG1 disorder
RS2502228152 FOXG1 Health Risk Likely pathogenic FOXG1 disorder, FOXG1 disorder
RS2502229732 MYH7 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2502232665 MYH7 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2502234362 MYH7 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2502234650 MYH7 Health Risk Conflicting classifications of pathogenicity Cardiomyopathy, Hypertrophic cardiomyopathy
RS2502236129 ZMYM2 Health Risk Pathogenic Congenital anomaly of kidney and urinary tract, Congenital anomaly of kidney and urinary tract
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