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
RS2147806122 COL4A5 Health Risk Pathogenic/Likely pathogenic Hematuria, X-linked Alport syndrome
RS2147806786 PHKA2 Health Risk Pathogenic Glycogen storage disease IXa2, Glycogen storage disease IXa2
RS2147806873 PHKA2 Health Risk Pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS2147807115 PHKA2 Health Risk Pathogenic Aland island eye disease, Aland island eye disease
RS2147809070 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2147809078 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2147809122 COL4A5 Health Risk Pathogenic —
RS2147810144 COL4A5 Health Risk Pathogenic —
RS2147810410 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2147810566 COL4A5 Health Risk Likely pathogenic —
RS2147811858 MED12 Health Risk Pathogenic FG syndrome 1, FG syndrome
RS2147812145 AKT3 Health Risk Pathogenic Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2
RS2147812232 RNF113A Health Risk Likely pathogenic Abnormal cerebral morphology, Abnormal cerebral morphology
RS2147812233 RNF113A Health Risk Conflicting classifications of pathogenicity Trichothiodystrophy 5, nonphotosensitive
RS2147813326 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2147813799 COL4A5 Health Risk Pathogenic —
RS2147813821 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2147813867 COL4A5 Health Risk Likely pathogenic —
RS2147814409 WDR45 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2147814431 WDR45 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2147814810 WDR45 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2147814841 WDR45 Health Risk Pathogenic —
RS2147814859 WDR45 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2147814875 WDR45 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2147814944 WDR45 Health Risk Likely pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2147815120 WDR45 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2147815135 WDR45 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2147815172 WDR45 Health Risk Likely pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2147815209 WDR45 Health Risk Likely pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2147815304 WDR45 Health Risk Likely pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2147815446 WDR45 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2147815668 WDR45 Health Risk Pathogenic —
RS2147816209 WDR45 Health Risk Pathogenic —
RS2147816288 WDR45 Health Risk Likely pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2147816332 WDR45 Health Risk Pathogenic/Likely pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2147816494 WDR45 Health Risk Pathogenic —
RS2147816498 WDR45 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2147816654 WDR45 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2147816920 MED12 Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2147817375 WDR45 Health Risk Pathogenic —
RS2147817379 WDR45 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2147817417 WDR45 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2147817625 WDR45 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2147817628 WDR45 Health Risk Likely pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2147817629 WDR45 Health Risk Pathogenic —
RS2147817681 WDR45 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2147817901 WDR45 Health Risk Conflicting classifications of pathogenicity Neurodegeneration with brain iron accumulation 5, Neurodegeneration with brain iron accumulation 5
RS2147818976 CHM Health Risk Pathogenic/Likely pathogenic Choroideremia, Choroideremia
RS2147819159 CHM Health Risk Likely pathogenic —
RS2147819355 COL4A5 Health Risk Conflicting classifications of pathogenicity X-linked Alport syndrome, X-linked Alport syndrome
RS2147819369 - Health Risk Likely pathogenic Choroideremia, Choroideremia
RS2147819501 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2147819583 COL4A5 Health Risk Likely pathogenic —
RS2147820825 COL4A5 Health Risk Pathogenic —
RS2147820987 COL4A5 Health Risk Likely pathogenic —
RS2147820991 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2147822607 MED12 Health Risk Likely pathogenic FG syndrome 1, FG syndrome 1
RS2147823333 MED12 Health Risk Pathogenic FG syndrome 1, Cholestasis-pigmentary retinopathy-cleft palate syndrome
RS2147825407 HADHB Health Risk Pathogenic Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
RS2147825515 HADHB Health Risk Pathogenic Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
RS2147826070 MED12 Health Risk Pathogenic FG syndrome 1, Cholestasis-pigmentary retinopathy-cleft palate syndrome
RS2147826312 MED12 Health Risk Likely pathogenic —
RS2147827179 MED12 Health Risk Likely pathogenic FG syndrome, FG syndrome
RS2147829163 DNAAF6 Health Risk Likely pathogenic Primary ciliary dyskinesia, Primary ciliary dyskinesia
RS2147829167 MED12 Health Risk Pathogenic FG syndrome 1, Cholestasis-pigmentary retinopathy-cleft palate syndrome
RS2147829909 HADHB Health Risk Pathogenic Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
RS2147830061 HADHB Health Risk Conflicting classifications of pathogenicity Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
RS2147831991 COL4A5 Health Risk Pathogenic —
RS2147832276 HADHB Health Risk Likely pathogenic Mitochondrial trifunctional protein deficiency, Mitochondrial trifunctional protein deficiency
RS2147832375 COL4A5 Health Risk Likely pathogenic —
RS2147832420 COL4A5 Health Risk Pathogenic —
RS2147832572 DOCK6 Health Risk Likely pathogenic —
RS2147832635 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2147833223 CASK Health Risk Likely pathogenic Thyroid cancer, nonmedullary
RS2147833779 SLC16A2 Health Risk Pathogenic Allan-Herndon-Dudley syndrome, Allan-Herndon-Dudley syndrome
RS2147833856 SLC16A2 Health Risk Likely pathogenic —
RS2147833877 SLC16A2 Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Allan-Herndon-Dudley syndrome
RS2147833883 SLC16A2 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2147834066 SLC16A2 Health Risk Likely pathogenic —
RS2147839335 MED12 Health Risk Pathogenic FG syndrome 1, Cholestasis-pigmentary retinopathy-cleft palate syndrome
RS2147839517 TANGO2 Health Risk Pathogenic —
RS2147840474 SERPINA7 Health Risk association Thyroxine-binding globulin quantitative trait locus, Thyroxine-binding globulin quantitative trait locus
RS2147841010 SERPINA7 Health Risk association Thyroxine-binding globulin quantitative trait locus, Thyroxine-binding globulin quantitative trait locus
RS2147841568 SERPINA7 Health Risk Pathogenic Thyroxine-binding globulin quantitative trait locus, Thyroxine-binding globulin quantitative trait locus
RS2147841751 SERPINA7 Health Risk association Thyroxine-binding globulin quantitative trait locus, Thyroxine-binding globulin quantitative trait locus
RS2147842078 DLG3 Health Risk Likely pathogenic Intellectual disability, X-linked 90
RS2147842225 MED12 Health Risk Pathogenic Cholestasis-pigmentary retinopathy-cleft palate syndrome, Cholestasis-pigmentary retinopathy-cleft palate syndrome
RS2147842365 DLG3 Health Risk Likely pathogenic See cases, Thyroid cancer
RS2147844739 MED12 Health Risk Likely pathogenic —
RS2147844887 MED12 Health Risk Likely pathogenic FG syndrome 1, Blepharophimosis - intellectual disability syndrome
RS2147845271 NKAP Health Risk Pathogenic Intellectual developmental disorder, X-linked
RS2147849728 COL4A5 Health Risk Likely pathogenic Autosomal dominant Alport syndrome, Autosomal dominant Alport syndrome
RS2147849915 COL4A5 Health Risk Likely pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2147849950 COL4A5 Health Risk Pathogenic —
RS2147850123 COL4A5 Health Risk Pathogenic X-linked Alport syndrome, X-linked Alport syndrome
RS2147850264 PCNT Health Risk Pathogenic —
RS2147852182 DOCK6 Health Risk Pathogenic Adams-Oliver syndrome 2, Adams-Oliver syndrome 2
RS2147853237 TRMU Health Risk Pathogenic/Likely pathogenic Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins, Aminoglycoside-induced deafness
RS2147855177 PHKA2 Health Risk Pathogenic Glycogen storage disease IXa1, Glycogen storage disease IXa1
RS2147856928 BRWD3 Health Risk Likely pathogenic —
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