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rs137852633

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 4 dystonia due to autosomal recessive GCH1 mutation
Make rs137852633(C;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position54845799
GeneGCH1
is asnp
is mentioned by
dbSNPrs137852633
ebirs137852633
HLIrs137852633
Exacrs137852633
Varsomers137852633
Maprs137852633
PheGenIrs137852633
hapmaprs137852633
1000 genomesrs137852633
hgdprs137852633
ensemblrs137852633
gopubmedrs137852633
geneviewrs137852633
scholarrs137852633
googlers137852633
pharmgkbrs137852633
gwascentralrs137852633
openSNPrs137852633
23andMers137852633
23andMe allrs137852633
SNP Nexus

SNPshotrs137852633
SNPdbers137852633
MSV3drs137852633
GWAS Ctlgrs137852633
Max Magnitude4
OMIM600225
Desc
Variant0022
Relatedalso
ClinVar
Risk rs137852633(G;G)
Alt rs137852633(G;G)
Reference rs137852633(C;C)
Significance Pathogenic
Disease Dystonia
Variation info
Gene GCH1
CLNDBN Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive
Reversed 1
HGVS NC_000014.8:g.55312517G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000009875.3,