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
RS1972664233 DNAH9 Health Risk Likely pathogenic —
RS1972735240 PPP1R13L Health Risk Likely pathogenic Primary dilated cardiomyopathy, Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities
RS1972742412 RNF43 Health Risk Conflicting classifications of pathogenicity —
RS1972767451 RNF43 Health Risk Conflicting classifications of pathogenicity Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
RS1972802448 INSR Health Risk Likely pathogenic Leprechaunism syndrome, Leprechaunism syndrome
RS1972803770 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS1972861647 RNF43 Health Risk Conflicting classifications of pathogenicity Sessile serrated polyposis cancer syndrome, Sessile serrated polyposis cancer syndrome
RS1972867616 NPHS1 Health Risk Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1972879158 NPHS1 Health Risk Pathogenic —
RS1972879328 NPHS1 Health Risk Pathogenic/Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1972905468 PARN Health Risk Pathogenic —
RS1972948538 NPHS1 Health Risk Pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1972986097 PPP1R13L Health Risk Likely pathogenic Primary dilated cardiomyopathy, Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities
RS1973023048 NPHS1 Health Risk Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1973023933 NPHS1 Health Risk Pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1973070541 NPHS1 Health Risk Conflicting classifications of pathogenicity Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1973073001 NPHS1 Health Risk Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1973089024 ACP5 Health Risk Pathogenic Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation
RS1973089176 NPHS1 Health Risk Pathogenic —
RS1973093514 PPP1R13L Health Risk Pathogenic/Likely pathogenic Primary dilated cardiomyopathy, Orofacial cleft
RS1973100441 NPHS1 Health Risk Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1973102039 NPHS1 Health Risk Pathogenic/Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1973103431 NPHS1 Health Risk Conflicting classifications of pathogenicity Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1973123878 NPHS1 Health Risk Pathogenic —
RS1973124127 NPHS1 Health Risk Pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1973128133 COL4A4 Health Risk Pathogenic Hematuria, benign familial
RS1973129633 NPHS1 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis, Focal segmental glomerulosclerosis
RS1973129665 COL4A4 Health Risk Pathogenic —
RS1973132502 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS1973133322 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS1973140216 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS1973142593 ACP5 Health Risk Pathogenic Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation
RS1973143259 MEOX1 Health Risk Pathogenic —
RS1973169054 NPHS1 Health Risk Pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1973171785 NPHS1 Health Risk Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1973176439 NPHS1 Health Risk Pathogenic/Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1973180778 NPHS1 Health Risk Pathogenic —
RS1973192389 NPHS1 Health Risk Pathogenic/Likely pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1973192570 NPHS1 Health Risk Pathogenic Finnish congenital nephrotic syndrome, Finnish congenital nephrotic syndrome
RS1973203506 ACP5 Health Risk Pathogenic Spondyloenchondrodysplasia with immune dysregulation, Spondyloenchondrodysplasia with immune dysregulation
RS1973237748 CCDC8 Health Risk Likely pathogenic 3M syndrome 3, 3M syndrome 3
RS1973238637 NPHS1 Health Risk Likely pathogenic Nephrotic syndrome, Nephrotic syndrome
RS1973248576 CCDC8 Health Risk Likely pathogenic 3M syndrome 3, 3M syndrome 3
RS1973271240 NPHS1 Health Risk Likely pathogenic —
RS1973343538 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS1973345860 BICRA Health Risk Pathogenic Intellectual disability, Coffin-Siris syndrome 12
RS1973356105 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS1973360239 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS1973379457 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS1973381731 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS1973387849 BICRA Health Risk Pathogenic Coffin-Siris syndrome 12, Coffin-Siris syndrome 12
RS1973422354 PHKB Health Risk Pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
RS1973430655 PHKB Health Risk Pathogenic —
RS1973468140 WDR62 Health Risk Likely pathogenic Intellectual disability, Intellectual disability
RS1973531054 PHKB Health Risk Pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
RS1973532430 PHKB Health Risk Likely pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
RS1973546077 SLC13A5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 25
RS1973640822 WDR62 Health Risk Conflicting classifications of pathogenicity Intellectual disability, Microcephaly 2
RS1973672109 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS1973697345 SLC13A5 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 25
RS1973699059 SLC13A5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 25
RS1973699766 SLC13A5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 25
RS1973745205 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS1973745447 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS1973758214 COL4A4 Health Risk Pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS1973765207 COL4A4 Health Risk Conflicting classifications of pathogenicity Hematuria, benign familial
RS1973796030 SLC13A5 Health Risk Conflicting classifications of pathogenicity Developmental and epileptic encephalopathy, 25
RS1973878360 SLC13A5 Health Risk Pathogenic Developmental and epileptic encephalopathy, 25
RS1973992894 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS1974009894 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS1974046221 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS1974104143 RNF43 Health Risk Conflicting classifications of pathogenicity —
RS1974129338 RYR1 Health Risk Pathogenic Central core myopathy, Central core myopathy
RS1974148669 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS1974188923 PHKB Health Risk Likely pathogenic Glycogen storage disease IXb, Glycogen storage disease IXb
RS1974216738 FOXC2 Health Risk Likely pathogenic Distichiasis-lymphedema syndrome, Distichiasis-lymphedema syndrome
RS1974220729 FOXC2 Health Risk Pathogenic Distichiasis-lymphedema syndrome, Distichiasis-lymphedema syndrome
RS1974224118 FOXC2 Health Risk Pathogenic Distichiasis-lymphedema syndrome, Distichiasis-lymphedema syndrome
RS1974228323 FOXC2 Health Risk Pathogenic —
RS1974229664 FOXC2 Health Risk Pathogenic Distichiasis-lymphedema syndrome, Distichiasis-lymphedema syndrome
RS1974295317 COL4A4 Health Risk Likely pathogenic Autosomal recessive Alport syndrome, Autosomal recessive Alport syndrome
RS1974401494 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS1974410266 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia of anesthesia, Malignant hyperthermia of anesthesia
RS1974465381 RYR1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, RYR1-related disorder
RS1974467952 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, RYR1-related disorder
RS1974497223 RYR1 Health Risk Likely pathogenic Malignant hyperthermia, susceptibility to
RS1974567691 ARHGEF18 Health Risk Pathogenic —
RS1974586605 KIF1C Health Risk Pathogenic/Likely pathogenic —
RS1974604610 DNAH9 Health Risk Pathogenic —
RS1974668891 KIF1C;LOC126862472 Health Risk Likely pathogenic —
RS1974690294 KIF1C Health Risk Pathogenic Spastic ataxia 2, Spastic ataxia 2
RS1974690692 KIF1C Health Risk Likely pathogenic —
RS1974751835 KIF1C Health Risk Likely pathogenic —
RS1974868088 ARHGEF18 Health Risk Pathogenic —
RS1974906528 COL4A4 Health Risk Pathogenic —
RS1974957518 DNAH9 Health Risk Pathogenic —
RS1975108349 KIF1C Health Risk Likely pathogenic —
RS1975138917 KIF1C Health Risk Likely pathogenic —
RS1975233179 ACSF3 Health Risk Pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
RS1975291440 ACSF3 Health Risk Pathogenic/Likely pathogenic Combined malonic and methylmalonic acidemia, Combined malonic and methylmalonic acidemia
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