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
RS2481401336 NEU1 Health Risk Likely pathogenic —
RS2481402996 NEU1 Health Risk Pathogenic —
RS2481403672 NEU1 Health Risk Pathogenic —
RS2481407914 NEU1 Health Risk Likely pathogenic —
RS2481408384 NEU1 Health Risk Pathogenic —
RS2481409372 NEU1 Health Risk Pathogenic —
RS2481410901 LMBRD1 Health Risk Likely pathogenic Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF
RS2481411360 LMBRD1 Health Risk Pathogenic Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF
RS2481411386 LMBRD1 Health Risk Likely pathogenic Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF
RS2481414438 NEU1 Health Risk Pathogenic —
RS2481466290 LMBRD1 Health Risk Likely pathogenic Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF
RS2481466497 LMBRD1 Health Risk Pathogenic Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF
RS2481485775 LMBRD1 Health Risk Pathogenic Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF
RS2481498586 IMPG1 Health Risk Likely pathogenic —
RS2481499681 LMBRD1 Health Risk Likely pathogenic Methylmalonic aciduria and homocystinuria type cblF, Methylmalonic aciduria and homocystinuria type cblF
RS2481526979 IMPG1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2481539365 IMPG1 Health Risk Likely pathogenic —
RS2481557966 BCKDHB Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2481558517 BCKDHB Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2481558879 BCKDHB Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2481559149 BCKDHB Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2481559722 BCKDHB Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1B
RS2481564750 KCNQ5 Health Risk Pathogenic —
RS2481566230 KCNQ5 Health Risk Pathogenic —
RS2481567115 UMPS Health Risk Pathogenic Cardiomyopathy, Oroticaciduria
RS2481569360 KCNQ5 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 46
RS2481575908 BCKDHB Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2481576688 BCKDHB Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2481589248 IMPG1 Health Risk Pathogenic —
RS2481606711 HFE Health Risk Pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS2481619371 HFE Health Risk Pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS2481620137 HFE Health Risk Pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS2481621832 HFE Health Risk Pathogenic Hereditary hemochromatosis, Hereditary hemochromatosis
RS2481623573 EHMT2 Health Risk Pathogenic Kleefstra-like syndrome, Kleefstra-like syndrome
RS2481647144 MLIP Health Risk Pathogenic Myopathy with myalgia, increased serum creatine kinase
RS2481652194 SGCD Health Risk Likely pathogenic Dilated cardiomyopathy 1L, Dilated cardiomyopathy 1L
RS2481653253 SGCD Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F
RS2481653983 SGCD Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2F, Autosomal recessive limb-girdle muscular dystrophy type 2F
RS2481656285 H4C3 Health Risk Likely pathogenic —
RS2481656826 H4C3 Health Risk Likely pathogenic H4C3-related disorder, H4C3-related disorder
RS2481725889 ZFP57 Health Risk Likely pathogenic —
RS2481741286 MLIP Health Risk Pathogenic Myopathy with myalgia, increased serum creatine kinase
RS2481742586 MLIP Health Risk Pathogenic Myopathy with myalgia, increased serum creatine kinase
RS2481766143 PHIP Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2481766764 PHIP Health Risk Likely pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2481797579 PHIP Health Risk Pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2481809653 NME5 Health Risk Pathogenic Ciliary dyskinesia, primary
RS2481817652 MAP3K7 Health Risk Conflicting classifications of pathogenicity —
RS2481822388 MAP3K7 Health Risk Conflicting classifications of pathogenicity Cardiospondylocarpofacial syndrome, Cardiospondylocarpofacial syndrome
RS2481832989 PHIP Health Risk Pathogenic —
RS2481833141 PHIP Health Risk Pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, Inborn genetic diseases
RS2481866114 PHIP Health Risk Pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2481866319 PHIP Health Risk Pathogenic —
RS2481878430 PHIP Health Risk Pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2481878453 PHIP Health Risk Likely pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2481883298 BCKDHB Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2481884229 BCKDHB Health Risk Likely pathogenic —
RS2481892793 PHIP Health Risk Likely pathogenic —
RS2481897981 PHIP Health Risk Likely pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2481898172 BCKDHB Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2481898452 PHIP Health Risk Likely pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2481898824 BCKDHB Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS2481899561 BCKDHB Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2481900030 BCKDHB Health Risk Pathogenic/Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2481900188 BCKDHB Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2481901220 BCKDHB Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2481919576 BCKDHB Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2481919877 BCKDHB Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease type 1A
RS2481920373 BCKDHB Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2481921012 BCKDHB Health Risk Pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2481921493 BCKDHB Health Risk Likely pathogenic Maple syrup urine disease, Maple syrup urine disease
RS2481934703 RFX6 Health Risk Pathogenic —
RS2481937153 RFX6 Health Risk Likely pathogenic RFX6-related disorder, RFX6-related disorder
RS2481946427 RFX6 Health Risk Likely pathogenic RFX6-related disorder, RFX6-related disorder
RS2481953351 MLIP Health Risk Pathogenic Myopathy with myalgia, increased serum creatine kinase
RS2481953475 MLIP Health Risk Likely pathogenic MLIP-related disorder, MLIP-related disorder
RS2481960127 RFX6 Health Risk Pathogenic —
RS2481962808 PHIP Health Risk Likely pathogenic PHIP-related disorder, PHIP-related disorder
RS2481963256 PHIP Health Risk Pathogenic PHIP-related disorder, PHIP-related disorder
RS2481974697 PHIP Health Risk Pathogenic —
RS2481981792 NUS1 Health Risk Likely pathogenic Congenital disorder of glycosylation, type IAA
RS2481982183 NUS1 Health Risk Likely pathogenic —
RS2481982381 NUS1 Health Risk Pathogenic Intellectual disability, autosomal dominant 55
RS2481982600 NUS1 Health Risk Pathogenic Congenital disorder of glycosylation, type IAA
RS2481982643 NUS1 Health Risk Pathogenic Congenital disorder of glycosylation, type IAA
RS2481982674 NUS1 Health Risk Pathogenic Congenital disorder of glycosylation, type IAA
RS2481983096 NUS1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 55
RS2481983107 NUS1 Health Risk Pathogenic Congenital disorder of glycosylation, type IAA
RS2481983161 NUS1 Health Risk Pathogenic Congenital disorder of glycosylation, type IAA
RS2481983215 NUS1 Health Risk Pathogenic Congenital disorder of glycosylation, type IAA
RS2481983597 NUS1 Health Risk Likely pathogenic Congenital disorder of glycosylation, type IAA
RS2481983720 NUS1 Health Risk Pathogenic Intellectual disability, autosomal dominant 55
RS2481983841 NUS1 Health Risk Pathogenic Congenital disorder of glycosylation, type IAA
RS2481983883 NUS1 Health Risk Pathogenic Congenital disorder of glycosylation, type IAA
RS2481983903 NUS1 Health Risk Likely pathogenic NUS1-related disorder, NUS1-related disorder
RS2481983991 NUS1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 55
RS2481984001 NUS1 Health Risk Pathogenic Congenital disorder of glycosylation, type IAA
RS2481999708 SEC63 Health Risk Likely pathogenic SEC63-related disorder, SEC63-related disorder
RS2482006049 PHIP Health Risk Pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
RS2482006630 PHIP Health Risk Likely pathogenic PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome, PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
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