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
RS2132804872 CDH23 Health Risk Likely pathogenic —
RS2132804878 CDH23 Health Risk Pathogenic Usher syndrome type 1D, Usher syndrome type 1D
RS2132805056 CDH23 Health Risk Pathogenic —
RS2132805287 CDH23 Health Risk Likely pathogenic Ear malformation, Ear malformation
RS2132807272 CDHR1 Health Risk Likely pathogenic —
RS2132809028 WAC Health Risk Pathogenic —
RS2132809199 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS2132811750 CHAT Health Risk Likely pathogenic Familial infantile myasthenia, Familial infantile myasthenia
RS2132813703 RET Health Risk Conflicting classifications of pathogenicity Multiple endocrine neoplasia, type 2
RS2132817885 RET Health Risk Pathogenic/Likely pathogenic RET-related disorder, Hereditary cancer-predisposing syndrome
RS2132820119 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS2132820242 CDH23 Health Risk Pathogenic —
RS2132820264 CDH23 Health Risk Pathogenic Pituitary adenoma 5, multiple types
RS2132820475 CDH23 Health Risk Pathogenic —
RS2132820703 CHAT Health Risk Pathogenic Familial infantile myasthenia, Familial infantile myasthenia
RS2132820982 CDHR1 Health Risk Likely pathogenic —
RS2132822152 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2132825843 WAC Health Risk Pathogenic DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation
RS2132826154 WAC Health Risk Likely pathogenic DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation
RS2132826354 CDH23 Health Risk Likely pathogenic —
RS2132828209 ELN Health Risk Likely pathogenic Cutis laxa, autosomal dominant 1
RS2132830435 COL5A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, Ehlers-Danlos syndrome
RS2132830490 COL5A1 Health Risk Pathogenic —
RS2132831777 BICC1 Health Risk Likely pathogenic Renal dysplasia, cystic
RS2132833489 CDHR1 Health Risk Likely pathogenic —
RS2132833694 WAC Health Risk Pathogenic See cases, See cases
RS2132833820 WAC Health Risk Pathogenic —
RS2132834429 WAC Health Risk Likely pathogenic DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation
RS2132836781 CDHR1 Health Risk Pathogenic —
RS2132838808 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2132841152 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2132841425 CDH23 Health Risk Pathogenic —
RS2132841517 CDH23 Health Risk Pathogenic —
RS2132844990 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2132845192 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2132846050 CDH23 Health Risk Likely pathogenic —
RS2132846322 CDH23 Health Risk Likely pathogenic —
RS2132847951 RET Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Multiple endocrine neoplasia
RS2132848217 COL5A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, Ehlers-Danlos syndrome
RS2132848313 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2132852540 CHAT Health Risk Pathogenic Familial infantile myasthenia, Familial infantile myasthenia
RS2132852801 WAC Health Risk Pathogenic See cases, See cases
RS2132853185 WAC Health Risk Pathogenic DeSanto-Shinawi syndrome due to WAC point mutation, DeSanto-Shinawi syndrome due to WAC point mutation
RS2132853537 IL2RA Health Risk Likely pathogenic Immunodeficiency due to CD25 deficiency, Immunodeficiency due to CD25 deficiency
RS2132853580 IL2RA Health Risk Conflicting classifications of pathogenicity Immunodeficiency due to CD25 deficiency, Immunodeficiency due to CD25 deficiency
RS2132854041 COL5A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, Ehlers-Danlos syndrome
RS2132855762 PLCE1 Health Risk Likely pathogenic Nephrotic syndrome, Nephrotic syndrome
RS2132856009 RET Health Risk Conflicting classifications of pathogenicity Hirschsprung disease, susceptibility to
RS2132856138 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2132858731 FREM1 Health Risk Pathogenic —
RS2132862248 WAC Health Risk Pathogenic —
RS2132862551 WAC Health Risk Pathogenic DeSanto-Shinawi syndrome, DeSanto-Shinawi syndrome
RS2132863198 WAC Health Risk Pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2132864123 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2132864295 COL5A1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, classic type
RS2132864714 FREM1 Health Risk Pathogenic —
RS2132864817 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2132864836 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2132864849 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2132865321 COL5A1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS2132871580 HK1 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental delay, Retinitis pigmentosa 79
RS2132872003 WAC Health Risk Pathogenic —
RS2132874649 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2132879262 COL5A1 Health Risk Likely pathogenic Ehlers-Danlos syndrome, Ehlers-Danlos syndrome
RS2132880685 NTRK2 Health Risk Likely pathogenic —
RS2132883536 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2132884146 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2132884703 HK1 Health Risk Likely pathogenic Hemolytic anemia due to hexokinase deficiency, Hemolytic anemia due to hexokinase deficiency
RS2132887747 COL5A1 Health Risk Pathogenic/Likely pathogenic Ehlers-Danlos syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2132887783 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2132897818 WT1 Health Risk Pathogenic Nephrotic syndrome, type 4
RS2132898640 WT1 Health Risk Conflicting classifications of pathogenicity Drash syndrome, Frasier syndrome
RS2132898667 WT1 Health Risk Likely pathogenic Nephrotic syndrome, type 4
RS2132898935 WT1 Health Risk Likely pathogenic WT1-related disorder, 6 conditions
RS2132900093 WT1 Health Risk Likely pathogenic —
RS2132901145 FKTN Health Risk Likely pathogenic Dilated cardiomyopathy 1X, Dilated cardiomyopathy 1X
RS2132902301 RET Health Risk Pathogenic —
RS2132913527 WT1 Health Risk Pathogenic Frasier syndrome, Frasier syndrome
RS2132913596 WT1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, WT1-related disorder
RS2132914663 WT1 Health Risk Likely pathogenic Nephrotic syndrome, type 4
RS2132914929 WT1 Health Risk Likely pathogenic Frasier syndrome, Nephrotic syndrome
RS2132915129 WT1 Health Risk Pathogenic Drash syndrome, Frasier syndrome
RS2132915155 WT1 Health Risk Pathogenic Drash syndrome, Frasier syndrome
RS2132915429 WT1 Health Risk Likely pathogenic Wilms tumor 1, Wilms tumor 1
RS2132919246 WT1 Health Risk Conflicting classifications of pathogenicity —
RS2132919280 WT1 Health Risk Pathogenic/Likely pathogenic WT1-related disorder, 6 conditions
RS2132920130 WT1 Health Risk Pathogenic Nephrotic syndrome, type 4
RS2132920206 WT1 Health Risk Likely pathogenic Nephrotic syndrome, type 4
RS2132920775 WT1 Health Risk Pathogenic Wilms tumor 1, 11p partial monosomy syndrome
RS2132921573 WT1 Health Risk Likely pathogenic Nephrotic syndrome, type 4
RS2132925550 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2132925640 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2132925663 CDH23 Health Risk Pathogenic —
RS2132925682 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2132925769 CDH23 Health Risk Pathogenic —
RS2132926166 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2132927249 CDH23 Health Risk Pathogenic/Likely pathogenic Pituitary adenoma 5, multiple types
RS2132927381 CDH23 Health Risk Pathogenic —
RS2132929231 CDH23 Health Risk Likely pathogenic —
RS2132929303 CDH23 Health Risk Pathogenic —
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