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
RS2533176062 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2533178301 RAB23 Health Risk Likely pathogenic Carpenter syndrome, Carpenter syndrome
RS2533178365 RAB23 Health Risk Pathogenic Carpenter syndrome, Carpenter syndrome
RS2533178474 RAB23 Health Risk Pathogenic Carpenter syndrome, Carpenter syndrome
RS2533178501 RAB23 Health Risk Pathogenic Carpenter syndrome, Carpenter syndrome
RS2533178789 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2533179337 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2533180988 COL12A1 Health Risk Pathogenic Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS2533181947 RIPK1 Health Risk Pathogenic —
RS2533186607 ITPR3 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease, demyelinating
RS2533191041 COL12A1 Health Risk Pathogenic Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS2533192086 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533193094 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2533193599 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533195021 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533196591 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533196638 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS2533197102 APC Health Risk Likely pathogenic Familial multiple polyposis syndrome, Familial multiple polyposis syndrome
RS2533197144 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533197433 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533197623 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533197933 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS2533198395 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533198962 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533199067 APC Health Risk Likely pathogenic Familial multiple polyposis syndrome, Familial multiple polyposis syndrome
RS2533199113 COL12A1 Health Risk Pathogenic Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS2533199200 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2533199446 RIPK1 Health Risk Pathogenic —
RS2533200101 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533200367 APC Health Risk Pathogenic/Likely pathogenic Familial multiple polyposis syndrome, Familial adenomatous polyposis 1
RS2533200460 PNPLA1 Health Risk Pathogenic —
RS2533200721 PNPLA1 Health Risk Conflicting classifications of pathogenicity Autosomal recessive congenital ichthyosis 10, Autosomal recessive congenital ichthyosis 10
RS2533201098 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533202503 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2533202515 EYS Health Risk Pathogenic/Likely pathogenic Retinal dystrophy, Retinitis pigmentosa 25
RS2533202552 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2533203067 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533203195 EYS Health Risk Pathogenic —
RS2533203264 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533203525 EYS Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2533203632 EYS Health Risk Pathogenic —
RS2533203643 EYS Health Risk Likely pathogenic —
RS2533203872 APC Health Risk Likely pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533205148 DNAH8 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2533205504 DNAH8 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2533212514 DNAH8 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2533214214 EYS Health Risk Likely pathogenic —
RS2533214688 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2533214937 RAB23 Health Risk Likely pathogenic Carpenter syndrome, Carpenter syndrome
RS2533217483 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2533217840 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2533218279 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533218327 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533218431 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533218996 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533219451 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533220691 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533221655 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533222368 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533222699 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533222884 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533225811 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2533225836 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2533226182 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2533226453 EYS Health Risk Pathogenic Retinitis pigmentosa 25, Retinal dystrophy
RS2533226464 EYS Health Risk Pathogenic —
RS2533226563 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2533231035 COL12A1 Health Risk Likely pathogenic Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS2533233898 MTO1 Health Risk Pathogenic Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
RS2533233973 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2533234050 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2533240331 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533240491 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533241308 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533241723 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533243061 JARID2 Health Risk Pathogenic Developmental delay with variable intellectual disability and dysmorphic facies, Developmental delay with variable intellectual disability and dysmorphic facies
RS2533243224 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533243489 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533244223 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533244469 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533245122 MTO1 Health Risk Pathogenic Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
RS2533245247 APC Health Risk Likely pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533246532 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533246544 MTO1 Health Risk Pathogenic Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
RS2533246626 MTO1 Health Risk Likely pathogenic Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
RS2533247779 APC Health Risk Likely pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533252843 TTN Health Risk Likely pathogenic Early-onset myopathy with fatal cardiomyopathy, Early-onset myopathy with fatal cardiomyopathy
RS2533253534 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2533253817 VEGFA Health Risk Likely pathogenic VEGFA-related disorder, VEGFA-related disorder
RS2533258726 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS2533261091 MTO1 Health Risk Pathogenic Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
RS2533261350 MTO1 Health Risk Pathogenic Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
RS2533263037 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2533264880 COL12A1 Health Risk Pathogenic Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS2533265739 COL12A1 Health Risk Pathogenic Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS2533266005 PKHD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease 4, Polycystic kidney disease 4
RS2533270278 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2533277541 COL12A1 Health Risk Pathogenic Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS2533277727 COL12A1 Health Risk Likely pathogenic Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS2533279241 MTO1 Health Risk Pathogenic Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency, Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
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