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
RS2533451167 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS2533451235 LCA5 Health Risk Likely pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS2533451264 LCA5 Health Risk Likely pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS2533451274 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2533451734 LCA5 Health Risk Pathogenic —
RS2533451741 LCA5 Health Risk Pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS2533451770 LCA5 Health Risk Likely pathogenic Leber congenital amaurosis 5, Leber congenital amaurosis 5
RS2533451791 LCA5 Health Risk Pathogenic —
RS2533453941 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS2533454040 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533454520 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533455354 TCOF1 Health Risk Likely pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS2533455449 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2533455719 DST Health Risk Pathogenic Epidermolysis bullosa simplex 3, localized or generalized intermediate
RS2533455762 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533456124 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2533456207 APC Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS2533456423 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533456610 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2533456861 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS2533457151 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS2533457159 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533457195 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533457324 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533457590 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2533458182 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS2533458266 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2533458377 APC Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533458737 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533458917 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533458995 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533459187 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2533459254 EYS Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2533459270 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2533459312 EYS Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2533459456 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS2533459473 EYS Health Risk Pathogenic Retinitis pigmentosa 25, Retinal dystrophy
RS2533459500 EYS Health Risk Pathogenic —
RS2533459560 EYS Health Risk Likely pathogenic —
RS2533460550 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2533460894 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533460980 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS2533461080 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533462694 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533462836 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533462992 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS2533463695 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533465887 APC Health Risk Likely pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533466759 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533468181 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533468824 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533468908 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533469313 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533470307 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533472032 LAMA2 Health Risk Pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2533473924 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533474022 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2533475536 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS2533475937 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2533475990 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533476847 APC Health Risk Pathogenic/Likely pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS2533476903 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS2533477589 IL6ST Health Risk Pathogenic —
RS2533477700 IL6ST Health Risk Pathogenic —
RS2533477720 LAMA2 Health Risk Likely pathogenic LAMA2-related muscular dystrophy, LAMA2-related muscular dystrophy
RS2533477734 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS2533477739 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS2533477745 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS2533477868 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Muscular dystrophy
RS2533478114 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, Merosin deficient congenital muscular dystrophy
RS2533478138 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2533478288 LAMA2 Health Risk Likely pathogenic Merosin deficient congenital muscular dystrophy, LAMA2-related muscular dystrophy
RS2533478861 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS2533478984 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533479082 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533479247 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533479941 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533480681 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533481097 IL6ST Health Risk Likely pathogenic —
RS2533481504 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533481925 KCNQ5 Health Risk Pathogenic —
RS2533483456 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533483718 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533483813 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533484139 IL6ST Health Risk Pathogenic —
RS2533484162 APC Health Risk Pathogenic/Likely pathogenic Familial multiple polyposis syndrome, Hereditary cancer-predisposing syndrome
RS2533485683 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533486127 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533486248 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2533486302 APC Health Risk Likely pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533486423 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2533486612 TRIO Health Risk Likely pathogenic Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome, Intellectual developmental disorder
RS2533486627 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533486688 EYS Health Risk Pathogenic —
RS2533486890 EYS Health Risk Pathogenic —
RS2533487026 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2533487121 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533487139 EYS Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2533487882 TCOF1 Health Risk Likely pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS2533488209 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial multiple polyposis syndrome
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