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
RS2533088753 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2533091746 JARID2 Health Risk Likely pathogenic Developmental delay with variable intellectual disability and dysmorphic facies, Developmental delay with variable intellectual disability and dysmorphic facies
RS2533093693 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2533093966 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2533094115 PLXND1 Health Risk Pathogenic Congenital heart defects, multiple types
RS2533094120 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2533094491 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2533096592 PKHD1 Health Risk Likely pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2533097821 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2533097999 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2533098735 DNAH8 Health Risk Likely pathogenic Spermatogenic failure 46, Spermatogenic failure 46
RS2533100772 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2533103607 COL12A1 Health Risk Likely pathogenic Bethlem myopathy 2, Ullrich congenital muscular dystrophy 2
RS2533103728 COL12A1 Health Risk Likely pathogenic —
RS2533103785 COL12A1 Health Risk Likely pathogenic Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS2533104395 COL12A1 Health Risk Pathogenic Bethlem myopathy 2, Bethlem myopathy 2
RS2533108502 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2533108830 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Hereditary cancer-predisposing syndrome
RS2533108914 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533109349 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533109896 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 1
RS2533110396 APC Health Risk Pathogenic Hereditary cancer-predisposing syndrome, 6 conditions
RS2533110909 APC Health Risk Pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533111527 APC Health Risk Likely pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533112109 APC Health Risk Likely pathogenic Familial adenomatous polyposis 1, Familial adenomatous polyposis 1
RS2533120316 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2533122531 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2533123818 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2533123850 TFAP2B Health Risk Likely pathogenic —
RS2533123879 TFAP2B Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2533124596 APC Health Risk Likely pathogenic Familial adenomatous polyposis 1, 6 conditions
RS2533127084 TCOF1 Health Risk Likely pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS2533127644 COL12A1 Health Risk Pathogenic Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS2533129531 TCOF1 Health Risk Pathogenic Treacher Collins syndrome 1, Treacher Collins syndrome 1
RS2533131179 JARID2 Health Risk Likely pathogenic See cases, See cases
RS2533134194 RREB1 Health Risk Pathogenic RREB1-associated Noonan-like syndrome, RREB1-associated Noonan-like syndrome
RS2533136246 EYS Health Risk Likely pathogenic —
RS2533136436 EYS Health Risk Pathogenic —
RS2533143581 COL12A1 Health Risk Pathogenic Ullrich congenital muscular dystrophy 2, Bethlem myopathy 2
RS2533144973 EYS Health Risk Pathogenic —
RS2533145178 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2533145305 EYS Health Risk Pathogenic —
RS2533148487 TFAP2B Health Risk Likely pathogenic —
RS2533148588 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2533148777 EYS Health Risk Pathogenic —
RS2533149036 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2533149418 EYS Health Risk Pathogenic —
RS2533149911 EYS Health Risk Pathogenic —
RS2533150092 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2533150161 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2533150184 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2533150447 EYS Health Risk Pathogenic —
RS2533150485 EYS Health Risk Pathogenic Retinal dystrophy, Retinal dystrophy
RS2533150519 EYS Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2533150852 EYS Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2533150905 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2533150983 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2533151293 EYS Health Risk Pathogenic —
RS2533151606 EYS Health Risk Pathogenic —
RS2533151634 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2533151871 EYS Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2533152075 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2533152129 EYS Health Risk Pathogenic —
RS2533152184 EYS Health Risk Pathogenic —
RS2533153113 EYS Health Risk Pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2533153768 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2533153861 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2533154320 EYS Health Risk Pathogenic —
RS2533154338 EYS Health Risk Pathogenic —
RS2533154352 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2533154554 EYS Health Risk Pathogenic —
RS2533154592 EYS Health Risk Pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2533154641 EYS Health Risk Pathogenic —
RS2533155158 EYS Health Risk Pathogenic —
RS2533155334 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2533155638 EYS Health Risk Pathogenic —
RS2533155824 EYS Health Risk Pathogenic —
RS2533155884 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2533158709 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2533158878 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2533158884 EYS Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2533159040 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2533165731 EYS Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2533165826 EYS Health Risk Pathogenic —
RS2533165910 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2533167879 COL12A1 Health Risk Likely pathogenic —
RS2533168787 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2533168805 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2533169049 EYS Health Risk Pathogenic —
RS2533169075 EYS Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2533169119 EYS Health Risk Likely pathogenic —
RS2533169906 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, EYS-related disorder
RS2533170427 EYS Health Risk Likely pathogenic —
RS2533170434 EYS Health Risk Likely pathogenic Retinitis pigmentosa 25, Retinitis pigmentosa 25
RS2533171057 FBN1 Health Risk Pathogenic Marfan syndrome, Familial thoracic aortic aneurysm and aortic dissection
RS2533172691 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2533173218 RRAGD Health Risk Likely pathogenic Hypomagnesemia 7, renal
RS2533173234 RRAGD Health Risk Pathogenic HYPOMAGNESEMIA 7, RENAL
RS2533173502 RRAGD Health Risk Pathogenic Hypomagnesemia 7, renal
RS2533174247 PKHD1 Health Risk Likely pathogenic —
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