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
RS2102413026 LAMB3 Health Risk Pathogenic —
RS2102413223 LAMB3 Health Risk Likely pathogenic —
RS2102413524 DSTYK Health Risk Likely pathogenic Congenital anomalies of kidney and urinary tract 1, Congenital anomalies of kidney and urinary tract 1
RS2102414095 CENPF Health Risk Likely pathogenic Stromme syndrome, Stromme syndrome
RS2102415377 PTPRC Health Risk Likely pathogenic Immunodeficiency 104, Immunodeficiency 104
RS2102416154 LAMB3 Health Risk Likely pathogenic —
RS2102416503 LAMB3 Health Risk Pathogenic —
RS2102419503 CENPF Health Risk Pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2102420104 LAMB3 Health Risk Pathogenic —
RS2102420131 LAMB3 Health Risk Pathogenic —
RS2102420949 LAMB3 Health Risk Pathogenic —
RS2102423955 LAMB3 Health Risk Likely pathogenic —
RS2102424137 LAMB3 Health Risk Pathogenic —
RS2102424525 LAMB3 Health Risk Pathogenic Abnormality of the skin, Abnormality of the skin
RS2102430895 LAMB3 Health Risk Pathogenic —
RS2102434789 LAMB3 Health Risk Pathogenic —
RS2102438416 LAMB3 Health Risk Pathogenic —
RS2102438650 LAMB3 Health Risk Pathogenic/Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS2102440742 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Retinal dystrophy
RS2102440764 USH2A Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2102444886 LAMB3 Health Risk Pathogenic —
RS2102445016 PTPRC Health Risk Pathogenic Immunodeficiency 104, Immunodeficiency 104
RS2102446289 LAMB3 Health Risk Pathogenic —
RS2102446425 LAMB3 Health Risk Likely pathogenic —
RS2102450642 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2102450680 USH2A Health Risk Pathogenic —
RS2102450707 USH2A Health Risk Pathogenic —
RS2102450764 USH2A Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2102451639 USH2A Health Risk Pathogenic —
RS2102451648 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS2102451706 USH2A Health Risk Pathogenic —
RS2102451863 USH2A Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2102452018 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2102453751 USH2A Health Risk Pathogenic —
RS2102455183 NPHP4 Health Risk Likely pathogenic Nephronophthisis, Nephronophthisis
RS2102458321 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS2102458324 USH2A Health Risk Likely pathogenic —
RS2102458388 USH2A Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2102458475 USH2A Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2102460193 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS2102460222 USH2A Health Risk Pathogenic —
RS2102460236 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Usher syndrome
RS2102460239 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinitis pigmentosa 39
RS2102460254 USH2A Health Risk Pathogenic —
RS2102460377 USH2A Health Risk Pathogenic —
RS2102460381 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome, Usher syndrome type 2A
RS2102460635 USH2A Health Risk Pathogenic —
RS2102460644 USH2A Health Risk Pathogenic —
RS2102460761 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2102463667 USH2A Health Risk Likely pathogenic —
RS2102463697 USH2A Health Risk Likely pathogenic —
RS2102463707 USH2A Health Risk Pathogenic —
RS2102464077 USH2A Health Risk Pathogenic —
RS2102464166 USH2A Health Risk Pathogenic/Likely pathogenic Usher syndrome type 2A, Retinal dystrophy
RS2102464224 USH2A Health Risk Pathogenic —
RS2102464376 USH2A Health Risk Pathogenic —
RS2102464408 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2102466345 USH2A Health Risk Pathogenic —
RS2102466384 USH2A Health Risk Pathogenic —
RS2102466420 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinal dystrophy
RS2102466516 USH2A Health Risk Pathogenic —
RS2102467034 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2102467762 LAMB3 Health Risk Likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz, Junctional epidermolysis bullosa gravis of Herlitz
RS2102469461 USH2A Health Risk Pathogenic —
RS2102469493 USH2A Health Risk Pathogenic Retinitis pigmentosa 39, Usher syndrome type 2A
RS2102469649 USH2A Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2102470099 USH2A Health Risk Likely pathogenic —
RS2102470142 USH2A Health Risk Conflicting classifications of pathogenicity Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2102470145 USH2A Health Risk Pathogenic —
RS2102475830 PTPRC Health Risk Likely pathogenic Immunodeficiency 104, Immunodeficiency 104
RS2102476647 USH2A Health Risk Pathogenic —
RS2102480253 ADIPOR1 Health Risk Pathogenic —
RS2102480814 USH2A Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2102481774 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinal dystrophy
RS2102481922 USH2A Health Risk Pathogenic —
RS2102482051 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2102483177 USH2A Health Risk Pathogenic/Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2102483271 USH2A Health Risk Conflicting classifications of pathogenicity —
RS2102483305 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2102489197 NAXE Health Risk Pathogenic Encephalopathy, progressive
RS2102489248 NAXE Health Risk Pathogenic Encephalopathy, progressive
RS2102491191 NAXE Health Risk Likely pathogenic Encephalopathy, progressive
RS2102491600 DPM3 Health Risk Pathogenic DPM3-congenital disorder of glycosylation, DPM3-congenital disorder of glycosylation
RS2102492616 USH2A Health Risk Likely pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2102494691 TARS2 Health Risk Pathogenic/Likely pathogenic Combined oxidative phosphorylation defect type 21, Combined oxidative phosphorylation defect type 21
RS2102496332 USH2A Health Risk Pathogenic —
RS2102499681 USH2A Health Risk Pathogenic —
RS2102499717 USH2A Health Risk Pathogenic Usher syndrome type 2A, USH2A-related disorder
RS2102499727 USH2A Health Risk Pathogenic —
RS2102499747 CACNA1E Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS2102499800 USH2A Health Risk Pathogenic —
RS2102499826 USH2A Health Risk Likely pathogenic Retinitis pigmentosa 39, Retinitis pigmentosa 39
RS2102504055 SLC41A1 Health Risk Pathogenic Nephronophthisis-like nephropathy 2, Nephronophthisis-like nephropathy 2
RS2102509840 CACNA1E Health Risk Conflicting classifications of pathogenicity —
RS2102510285 TARS2 Health Risk Likely pathogenic Combined oxidative phosphorylation defect type 21, Combined oxidative phosphorylation defect type 21
RS2102512645 CD46 Health Risk Conflicting classifications of pathogenicity Atypical hemolytic-uremic syndrome, Atypical hemolytic-uremic syndrome
RS2102522151 USH2A Health Risk Pathogenic Ear malformation, Ear malformation
RS2102522326 USH2A Health Risk Pathogenic —
RS2102524828 USH2A Health Risk Pathogenic Usher syndrome type 2A, Usher syndrome type 2A
RS2102524917 USH2A Health Risk Pathogenic —
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