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
RS2522551580 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2522551905 TYMP Health Risk Pathogenic —
RS2522552599 DMD Health Risk Likely pathogenic Myopathy, Myopathy
RS2522552894 PHKA1 Health Risk Pathogenic Glycogen storage disease IXd, Glycogen storage disease IXd
RS2522553272 DMD Health Risk Pathogenic Muscular dystrophy, Duchenne muscular dystrophy
RS2522553864 COL9A2 Health Risk Likely pathogenic —
RS2522557237 COL9A2 Health Risk Pathogenic —
RS2522557278 COL9A2 Health Risk Pathogenic —
RS2522561294 COL9A2 Health Risk Likely pathogenic COL9A2-related disorder, COL9A2-related disorder
RS2522565446 DMD Health Risk Likely pathogenic Neuromuscular disease caused by qualitative or quantitative defects of dystrophin, Neuromuscular disease caused by qualitative or quantitative defects of dystrophin
RS2522565802 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2522565997 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2522566050 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2522567971 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2522568739 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2522569580 DMD Health Risk Likely pathogenic Becker muscular dystrophy, Duchenne muscular dystrophy
RS2522569884 COL9A2 Health Risk Pathogenic —
RS2522570520 COL9A2 Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2522573422 DMD Health Risk Likely pathogenic —
RS2522581753 GRHL3 Health Risk Likely pathogenic —
RS2522582333 GRHL3 Health Risk Likely pathogenic Van der Woude syndrome 2, Van der Woude syndrome 2
RS2522584464 XIAP Health Risk Pathogenic X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency
RS2522585183 XIAP Health Risk Pathogenic X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency
RS2522585460 XIAP Health Risk Pathogenic X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency
RS2522585616 XIAP Health Risk Conflicting classifications of pathogenicity X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency
RS2522585961 XIAP Health Risk Pathogenic X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency
RS2522587785 OPN1LW Health Risk Likely pathogenic Protan defect, Protan defect
RS2522589875 NPHP4 Health Risk Pathogenic Nephronophthisis 4, Nephronophthisis 4
RS2522590553 XIAP Health Risk Likely pathogenic XIAP-related disorder, XIAP-related disorder
RS2522596299 XIAP Health Risk Pathogenic X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency
RS2522596304 XIAP Health Risk Pathogenic X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency
RS2522596336 XIAP Health Risk Pathogenic X-linked lymphoproliferative disease due to XIAP deficiency, XIAP-related disorder
RS2522599015 ALDH4A1 Health Risk Likely pathogenic Hyperprolinemia type 2, Hyperprolinemia type 2
RS2522603990 RSPO1 Health Risk Likely pathogenic Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome, RSPO1-related disorder
RS2522608482 GRHL3 Health Risk Likely pathogenic Van der Woude syndrome 2, Van der Woude syndrome 2
RS2522617063 ALDH4A1 Health Risk Likely pathogenic Hyperprolinemia type 2, Hyperprolinemia type 2
RS2522618803 C8A Health Risk Pathogenic —
RS2522621962 GRHL3 Health Risk Likely pathogenic GRHL3-related disorder, GRHL3-related disorder
RS2522622618 GRHL3 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2522625136 XIAP Health Risk Conflicting classifications of pathogenicity X-linked lymphoproliferative disease due to XIAP deficiency, X-linked lymphoproliferative disease due to XIAP deficiency
RS2522637013 KDM6A Health Risk Pathogenic —
RS2522637621 KDM6A Health Risk Pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS2522646617 GRHL3 Health Risk Likely pathogenic Van der Woude syndrome 2, Van der Woude syndrome 2
RS2522663621 BCORL1 Health Risk Likely pathogenic Shukla-Vernon syndrome, Shukla-Vernon syndrome
RS2522669795 MECR Health Risk Pathogenic —
RS2522671934 KDM6A Health Risk Pathogenic Kabuki syndrome 2, Kabuki syndrome 2
RS2522672708 ALDH4A1 Health Risk Conflicting classifications of pathogenicity Hyperprolinemia type 2, Hyperprolinemia type 2
RS2522684220 MECR Health Risk Pathogenic —
RS2522684473 FGD1 Health Risk Likely pathogenic Aarskog syndrome, Aarskog syndrome
RS2522688358 FGD1 Health Risk Likely pathogenic Aarskog syndrome, Aarskog syndrome
RS2522688418 FGD1 Health Risk Likely pathogenic Aarskog syndrome, Aarskog syndrome
RS2522689025 AGRN Health Risk Pathogenic Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8
RS2522690335 SLC30A2 Health Risk Likely pathogenic Zinc deficiency, transient neonatal
RS2522691572 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2522691621 FGD1 Health Risk Likely pathogenic —
RS2522691806 AGRN Health Risk Likely pathogenic Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8
RS2522692204 FGD1 Health Risk Pathogenic Aarskog syndrome, Aarskog syndrome
RS2522692782 RERE Health Risk Pathogenic —
RS2522692819 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2522693820 FGD1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2522693895 FGD1 Health Risk Pathogenic Aarskog syndrome, Aarskog syndrome
RS2522695366 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2522697912 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Familial focal epilepsy with variable foci
RS2522697979 RERE Health Risk Pathogenic Neurodevelopmental disorder with or without anomalies of the brain, eye
RS2522698895 FGD1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2522698958 FGD1 Health Risk Likely pathogenic Aarskog syndrome, Aarskog syndrome
RS2522700010 FGD1 Health Risk Pathogenic —
RS2522706561 ESPN Health Risk Likely pathogenic Rare genetic deafness, Rare genetic deafness
RS2522707034 RERE Health Risk Likely pathogenic Neurodevelopmental disorder with or without anomalies of the brain, eye
RS2522708942 FGD1 Health Risk Likely pathogenic —
RS2522709066 FGD1 Health Risk Pathogenic Aarskog syndrome, Aarskog syndrome
RS2522709567 FGD1 Health Risk Pathogenic Aarskog syndrome, Aarskog syndrome
RS2522709643 FGD1 Health Risk Pathogenic Aarskog syndrome, Aarskog syndrome
RS2522710840 ATP13A2 Health Risk Likely pathogenic Neurodegeneration with brain iron accumulation, Neurodegeneration with brain iron accumulation
RS2522711086 FLNA Health Risk Pathogenic Heterotopia, periventricular
RS2522712579 FLNA Health Risk Likely pathogenic Frontometaphyseal dysplasia 1, Frontometaphyseal dysplasia 1
RS2522713003 FLNA Health Risk Pathogenic Heterotopia, periventricular
RS2522713596 FLNA Health Risk Pathogenic Heterotopia, periventricular
RS2522714066 FLNA Health Risk Pathogenic Melnick-Needles syndrome, Oto-palato-digital syndrome
RS2522714571 FGD1 Health Risk Pathogenic —
RS2522714778 FLNA Health Risk Likely pathogenic FLNA-related disorder, Cardiac valvular dysplasia
RS2522715027 FLNA Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2522715055 FLNA Health Risk Pathogenic Melnick-Needles syndrome, Heterotopia
RS2522715270 FGD1 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2522715548 FGD1 Health Risk Likely pathogenic —
RS2522715770 FGD1 Health Risk Pathogenic —
RS2522715819 KDF1 Health Risk Pathogenic —
RS2522716211 RERE Health Risk Likely pathogenic Neurodevelopmental disorder with or without anomalies of the brain, eye
RS2522716301 KDF1 Health Risk Likely pathogenic Hypodontia, Hypodontia
RS2522716359 FGD1 Health Risk Pathogenic FGD1-related disorder, FGD1-related disorder
RS2522716847 RERE Health Risk Pathogenic Neurodevelopmental disorder with or without anomalies of the brain, eye
RS2522717190 AGRN Health Risk Pathogenic Congenital myasthenic syndrome 8, Congenital myasthenic syndrome 8
RS2522719482 FLNA Health Risk Likely pathogenic FLNA-related disorder, FLNA-related disorder
RS2522719685 FLNA Health Risk Likely pathogenic FLNA-related disorder, FLNA-related disorder
RS2522719819 FLNA Health Risk Pathogenic Oto-palato-digital syndrome, type II
RS2522721064 FLNA Health Risk Pathogenic —
RS2522721432 FLNA Health Risk Pathogenic Melnick-Needles syndrome, Oto-palato-digital syndrome
RS2522721656 FLNA Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Frontometaphyseal dysplasia
RS2522721718 FLNA Health Risk Pathogenic Melnick-Needles syndrome, Oto-palato-digital syndrome
RS2522722829 C8B Health Risk Pathogenic —
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