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
RS1555797231 TCF4 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555797248 TCF4 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555799628 RYR1 Health Risk Pathogenic/Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS1555800097 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS1555800610 PRX Health Risk Pathogenic/Likely pathogenic Charcot-Marie-Tooth disease, Charcot-Marie-Tooth disease type 4
RS1555800611 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555800620 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555800631 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555800648 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555800701 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS1555800724 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555800819 PRX Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease type 4, Inborn genetic diseases
RS1555801290 PRX Health Risk Pathogenic Dejerine-Sottas disease, Dejerine-Sottas disease
RS1555801777 CRX Health Risk Likely pathogenic —
RS1555801843 RYR1 Health Risk Likely pathogenic —
RS1555801850 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS1555801872 RYR1 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS1555801874 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS1555801879 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS1555801902 RYR1 Health Risk Likely pathogenic RYR1-related disorder, Centronuclear myopathy
RS1555801963 CRX Health Risk Likely pathogenic Macular dystrophy, Macular dystrophy
RS1555801973 MKKS Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Bardet-Biedl syndrome 6
RS1555801989 CRX Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS1555802009 MKKS Health Risk Pathogenic Bardet-Biedl syndrome 6, Bardet-Biedl syndrome 6
RS1555802058 CRX Health Risk Likely pathogenic —
RS1555802173 PRX Health Risk Likely pathogenic —
RS1555802242 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555802245 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS1555802258 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555802259 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555802270 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS1555802275 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS1555802287 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555802291 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555802312 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555802710 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555802822 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS1555802864 MED25 Health Risk Likely pathogenic —
RS1555803186 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS1555803191 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555803213 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Hypercholesterolemia
RS1555803254 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555803257 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS1555803259 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555803280 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS1555803327 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555803337 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555803354 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555803383 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555803391 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555803409 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555803414 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS1555803423 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555803424 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555803425 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS1555803426 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555803427 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555803428 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555803432 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555803439 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS1555803449 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555803455 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555803471 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS1555803481 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555803641 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555803643 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555803644 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS1555803701 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555803803 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS1555803810 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, King Denborough syndrome
RS1555803837 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555803841 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555803852 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS1555803879 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS1555803908 LDLR Health Risk Conflicting classifications of pathogenicity Hypercholesterolemia, familial
RS1555803912 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555803913 LDLR Health Risk Pathogenic —
RS1555803922 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS1555803933 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Congenital multicore myopathy with external ophthalmoplegia
RS1555803960 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS1555804443 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555804455 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS1555804467 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS1555804545 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555804700 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555804717 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555804729 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Familial hypercholesterolemia
RS1555804777 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555804780 PAX1 Health Risk Likely pathogenic Otofaciocervical syndrome 2, Otofaciocervical syndrome 2
RS1555804793 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555804794 PAX1 Health Risk Conflicting classifications of pathogenicity Otofaciocervical syndrome 2, Otofaciocervical syndrome 2
RS1555805127 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS1555805337 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555805348 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555805360 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS1555805380 LDLR Health Risk Likely pathogenic Hypercholesterolemia, familial
RS1555805409 LDLR Health Risk Pathogenic/Likely pathogenic Hypercholesterolemia, familial
RS1555805413 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555805490 LDLR Health Risk Pathogenic Hypercholesterolemia, familial
RS1555805507 LDLR Health Risk Pathogenic Familial hypercholesterolemia, Cardiovascular phenotype
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