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
RS2540425440 PTPN11 Health Risk Conflicting classifications of pathogenicity Noonan syndrome, Proportionate short stature
RS2540425549 PTPN11 Health Risk Likely pathogenic PTPN11-related disorder, PTPN11-related disorder
RS2540425577 PTPN11 Health Risk Pathogenic RASopathy, RASopathy
RS2540426135 IRAK4 Health Risk Pathogenic Immunodeficiency 67, Immunodeficiency 67
RS2540426895 C5 Health Risk Likely pathogenic —
RS2540427371 NOTCH1 Health Risk Pathogenic Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS2540430178 C5 Health Risk Pathogenic —
RS2540431049 EPS8 Health Risk Pathogenic —
RS2540431340 NOTCH1 Health Risk Pathogenic Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS2540436107 TBX5 Health Risk Pathogenic Aortic valve disease 2, Aortic valve disease 2
RS2540436238 TBX5 Health Risk Pathogenic Aortic valve disease 2, Aortic valve disease 2
RS2540436280 TBX5 Health Risk Pathogenic Holt-Oram syndrome, Holt-Oram syndrome
RS2540436320 TBX5 Health Risk Pathogenic Aortic valve disease 2, Aortic valve disease 2
RS2540436653 IRAK4 Health Risk Pathogenic Immunodeficiency 67, Immunodeficiency 67
RS2540437045 NOTCH1 Health Risk Pathogenic Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS2540437588 NOTCH1 Health Risk Pathogenic NOTCH1-related disorder, NOTCH1-related disorder
RS2540437866 POC1B Health Risk Likely pathogenic —
RS2540440269 NOTCH1 Health Risk Pathogenic Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS2540444114 NOTCH1 Health Risk Pathogenic NOTCH1-related disorder, NOTCH1-related disorder
RS2540444867 POC1B Health Risk Likely pathogenic —
RS2540445590 PTPN11 Health Risk Conflicting classifications of pathogenicity Noonan syndrome 1, Juvenile myelomonocytic leukemia
RS2540446470 NOTCH1 Health Risk Pathogenic Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS2540452202 NOTCH1 Health Risk Pathogenic —
RS2540452270 PTPN11 Health Risk Pathogenic RASopathy, RASopathy
RS2540452961 NOTCH1 Health Risk Pathogenic Aortic valve disease 1, Adams-Oliver syndrome 5
RS2540455720 PCDH15 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS2540455872 NOTCH1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2540456451 PCDH15 Health Risk Pathogenic —
RS2540457138 PTPN11 Health Risk Likely pathogenic Noonan syndrome 1, Noonan syndrome 1
RS2540457229 PTPN11 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, RASopathy
RS2540457334 TBX5 Health Risk Pathogenic Holt-Oram syndrome, Holt-Oram syndrome
RS2540457665 NOTCH1 Health Risk Likely pathogenic Adams-Oliver syndrome 5, Adams-Oliver syndrome 5
RS2540457891 TBX5 Health Risk Likely pathogenic Holt-Oram syndrome, Holt-Oram syndrome
RS2540458625 C5 Health Risk Likely pathogenic —
RS2540458943 CEP164 Health Risk Pathogenic Nephronophthisis 15, Nephronophthisis 15
RS2540459597 NOTCH1 Health Risk Pathogenic Adams-Oliver syndrome 5, NOTCH1-related disorder
RS2540461112 C5 Health Risk Pathogenic —
RS2540461335 CEP164 Health Risk Likely pathogenic Nephronophthisis 15, Nephronophthisis 15
RS2540462269 NOTCH1 Health Risk Likely pathogenic —
RS2540464494 C5 Health Risk Pathogenic —
RS2540465831 PTPN11 Health Risk Likely pathogenic Metachondromatosis, Metachondromatosis
RS2540466994 TBX5 Health Risk Pathogenic Aortic valve disease 2, Aortic valve disease 2
RS2540467152 TBX5 Health Risk Pathogenic Holt-Oram syndrome, Holt-Oram syndrome
RS2540467182 TBX5 Health Risk Likely pathogenic Aortic valve disease 2, Aortic valve disease 2
RS2540470663 TRAPPC9 Health Risk Pathogenic —
RS2540470879 TRAPPC9 Health Risk Pathogenic —
RS2540471325 TBX5 Health Risk Likely pathogenic —
RS2540471405 TBX5 Health Risk Conflicting classifications of pathogenicity Aortic valve disease 2, Aortic valve disease 2
RS2540471436 TBX5 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2540471519 TBX5 Health Risk Pathogenic —
RS2540471641 TBX5 Health Risk Likely pathogenic Holt-Oram syndrome, Holt-Oram syndrome
RS2540472643 TBX5 Health Risk Likely pathogenic Holt-Oram syndrome, Holt-Oram syndrome
RS2540472661 TBX5 Health Risk Pathogenic Holt-Oram syndrome, Holt-Oram syndrome
RS2540475270 TBX5 Health Risk Likely pathogenic Aortic valve disease 2, Aortic valve disease 2
RS2540475443 TBX5 Health Risk Pathogenic —
RS2540475446 TBX5 Health Risk Conflicting classifications of pathogenicity Holt-Oram syndrome, Holt-Oram syndrome
RS2540477662 TBX5 Health Risk Pathogenic Aortic valve disease 2, Aortic valve disease 2
RS2540481422 IRAK4 Health Risk Pathogenic Immunodeficiency 67, Immunodeficiency 67
RS2540481495 KIF5A Health Risk Likely pathogenic Hereditary spastic paraplegia 10, Hereditary spastic paraplegia 10
RS2540488916 IRAK4 Health Risk Pathogenic Immunodeficiency 67, Immunodeficiency 67
RS2540492451 NOTCH1 Health Risk Likely pathogenic —
RS2540492992 KIF5A Health Risk Likely pathogenic Hereditary spastic paraplegia 10, Hereditary spastic paraplegia 10
RS2540493207 KIF5A Health Risk Likely pathogenic Peripheral neuropathy, Peripheral neuropathy
RS2540493214 KIF5A Health Risk Pathogenic —
RS2540494891 KIF5A Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2540494895 KIF5A Health Risk Likely pathogenic Hereditary spastic paraplegia 10, Hereditary spastic paraplegia 10
RS2540496937 KIF5A Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2540499310 KIF5A Health Risk Pathogenic Hereditary spastic paraplegia 10, Hereditary spastic paraplegia 10
RS2540499352 KIF5A Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2540499468 KIF5A Health Risk Likely pathogenic Hereditary spastic paraplegia 10, Hereditary spastic paraplegia 10
RS2540499492 KIF5A Health Risk Conflicting classifications of pathogenicity Spastic paraplegia, Spastic paraplegia
RS2540501760 KIF5A Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2540503039 KIF5A Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2540508034 KIF5A Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2540508044 KIF5A Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS2540509221 KIF5A Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2540511791 KIF5A Health Risk Likely pathogenic Auditory neuropathy, Auditory neuropathy
RS2540515401 KIF5A Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS2540515721 KIF5A Health Risk Likely pathogenic Myoclonus, intractable
RS2540516288 KIF5A Health Risk Likely pathogenic KIF5A-related disorder, KIF5A-related disorder
RS2540517278 KIF5A Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2540520556 ACBD5 Health Risk Pathogenic —
RS2540534282 GYS2 Health Risk Pathogenic Glycogen storage disorder due to hepatic glycogen synthase deficiency, Glycogen storage disorder due to hepatic glycogen synthase deficiency
RS2540545009 TRAPPC9 Health Risk Pathogenic Intellectual disability, autosomal recessive 13
RS2540546209 TRAPPC9 Health Risk Likely pathogenic Intellectual disability, autosomal recessive 13
RS2540548302 FGD4 Health Risk Pathogenic —
RS2540549307 DIP2C Health Risk Pathogenic —
RS2540549360 FGD4 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2540556962 GLE1 Health Risk Pathogenic —
RS2540557166 GLE1 Health Risk Pathogenic —
RS2540557182 GLE1 Health Risk Pathogenic —
RS2540560824 POC1B Health Risk Pathogenic —
RS2540573705 SUOX Health Risk Pathogenic Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS2540574261 SUOX Health Risk Pathogenic Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS2540574296 GLE1 Health Risk Pathogenic —
RS2540574448 SUOX Health Risk Conflicting classifications of pathogenicity Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS2540575551 SUOX Health Risk Pathogenic Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS2540575913 SUOX Health Risk Pathogenic Sulfite oxidase deficiency, Sulfite oxidase deficiency
RS2540575955 SUOX Health Risk Pathogenic Sulfite oxidase deficiency, SUOX-related disorder
RS2540575967 SUOX Health Risk Pathogenic Sulfite oxidase deficiency, Sulfite oxidase deficiency
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