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
RS2151766883 ANKRD11 Health Risk Likely pathogenic KBG syndrome, KBG syndrome
RS2151767204 PARN Health Risk Likely pathogenic Dyskeratosis congenita, autosomal recessive 6
RS2151768710 EVC Health Risk Pathogenic Ellis-van Creveld syndrome, Curry-Hall syndrome
RS2151771879 PKD1 Health Risk Likely pathogenic —
RS2151772170 PKD1 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Polycystic kidney disease
RS2151772321 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2151772458 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS2151774462 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2151776957 PKD1 Health Risk Pathogenic —
RS2151777194 PKHD1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive polycystic kidney disease, Polycystic kidney disease 4
RS2151777326 PKHD1 Health Risk Pathogenic Autosomal recessive polycystic kidney disease, Autosomal recessive polycystic kidney disease
RS2151778258 PKHD1 Health Risk Likely pathogenic Polycystic kidney disease 4, Polycystic kidney disease 4
RS2151779880 PARN Health Risk Pathogenic —
RS2151783410 ANKRD11 Health Risk Likely pathogenic KBG syndrome, KBG syndrome
RS2151783529 PKD1 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS2151783532 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS2151783840 ANKRD11 Health Risk Pathogenic —
RS2151783909 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2151784027 ANKRD11 Health Risk Pathogenic See cases, See cases
RS2151785467 PKD1 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Polycystic kidney disease
RS2151785622 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2151785975 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2151786400 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2151786492 PKD1 Health Risk Pathogenic —
RS2151786683 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS2151787383 PARN Health Risk Pathogenic/Likely pathogenic Dyskeratosis congenita, autosomal recessive 6
RS2151787670 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS2151788037 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2151788244 PKD1 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS2151788281 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS2151788870 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2151789316 PKD1 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS2151789587 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2151790199 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2151790460 PKD1 Health Risk Likely pathogenic See cases, See cases
RS2151790499 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2151790507 PKD1 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS2151790839 PKD1 Health Risk Pathogenic —
RS2151791178 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2151791889 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2151792059 PKD1 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Polycystic kidney disease
RS2151792322 PKD1 Health Risk Pathogenic —
RS2151792963 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS2151794620 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, adult type
RS2151795440 PARN Health Risk Likely pathogenic —
RS2151795442 PARN Health Risk Likely pathogenic Dyskeratosis congenita, autosomal recessive 6
RS2151795458 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2151796475 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2151796546 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2151796950 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2151797547 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2151797664 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS2151797695 PARN Health Risk Pathogenic Dyskeratosis congenita, autosomal recessive 6
RS2151797766 ANKRD11 Health Risk Pathogenic KBG syndrome, KBG syndrome
RS2151798259 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS2151798372 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2151798827 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS2151799171 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS2151799287 GUCY2D Health Risk Pathogenic Leber congenital amaurosis 1, Cone-rod dystrophy 6
RS2151799357 GUCY2D Health Risk Pathogenic Leber congenital amaurosis 1, Leber congenital amaurosis 1
RS2151799399 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2151799452 GUCY2D Health Risk Pathogenic Cone-rod dystrophy 6, Leber congenital amaurosis 1
RS2151799492 GUCY2D Health Risk Pathogenic Cone-rod dystrophy 6, Leber congenital amaurosis 1
RS2151799567 GUCY2D Health Risk Pathogenic Leber congenital amaurosis 1, Cone-rod dystrophy 6
RS2151799674 GUCY2D Health Risk Pathogenic/Likely pathogenic Leber congenital amaurosis 1, Leber congenital amaurosis 1
RS2151799690 GUCY2D Health Risk Conflicting classifications of pathogenicity Leber congenital amaurosis 1, Cone-rod dystrophy 6
RS2151800505 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2151800607 DNAH5 Health Risk Pathogenic/Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia 3
RS2151800620 GUCY2D Health Risk Pathogenic Cone-rod dystrophy 6, Leber congenital amaurosis 1
RS2151800708 SYNM Health Risk Conflicting classifications of pathogenicity SYNM-related disorder, SYNM-related disorder
RS2151800732 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2151800871 PKD1 Health Risk Pathogenic —
RS2151801050 GUCY2D Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa, Autosomal recessive optic atrophy
RS2151801188 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS2151801563 GUCY2D Health Risk Likely pathogenic Cone-rod dystrophy 6, Leber congenital amaurosis 1
RS2151802518 GUCY2D Health Risk Likely pathogenic Leber congenital amaurosis 1, Leber congenital amaurosis 1
RS2151802780 GUCY2D Health Risk Likely pathogenic Leber congenital amaurosis 1, Leber congenital amaurosis 1
RS2151802829 GUCY2D Health Risk Pathogenic Leber congenital amaurosis 1, Cone-rod dystrophy 6
RS2151802832 GUCY2D Health Risk Likely pathogenic Leber congenital amaurosis 1, Leber congenital amaurosis 1
RS2151803131 GUCY2D Health Risk Likely pathogenic Cone-rod dystrophy 6, Leber congenital amaurosis 1
RS2151803221 NLRP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2151803259 NLRP1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2151803362 GUCY2D Health Risk Likely pathogenic Cone-rod dystrophy 6, Leber congenital amaurosis 1
RS2151803659 GUCY2D Health Risk Pathogenic Leber congenital amaurosis 1, Cone-rod dystrophy 6
RS2151803661 GUCY2D Health Risk Likely pathogenic Leber congenital amaurosis 1, Leber congenital amaurosis 1
RS2151804597 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2151804604 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS2151805582 KARS1 Health Risk Pathogenic —
RS2151806438 PKD1 Health Risk Likely pathogenic Autosomal dominant polycystic kidney disease, Polycystic kidney disease
RS2151806960 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2151807051 DNAH5 Health Risk Pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2151809215 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS2151809445 KARS1 Health Risk Likely pathogenic Global developmental delay, Seizure
RS2151809774 SKIC2 Health Risk Pathogenic —
RS2151812559 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2151812589 SKIC2 Health Risk Pathogenic —
RS2151812964 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, adult type
RS2151813002 MYH10 Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS2151813077 PKD1 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS2151813928 SKIC2 Health Risk Likely pathogenic —
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