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rs104894435

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 4 dystonia due to autosomal recessive GCH1 mutation
(G;G) 0 common in clinvar
Make rs104894435(A;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position54902341
GeneGCH1
is asnp
is mentioned by
dbSNPrs104894435
ebirs104894435
HLIrs104894435
Exacrs104894435
Varsomers104894435
Maprs104894435
PheGenIrs104894435
hapmaprs104894435
1000 genomesrs104894435
hgdprs104894435
ensemblrs104894435
gopubmedrs104894435
geneviewrs104894435
scholarrs104894435
googlers104894435
pharmgkbrs104894435
gwascentralrs104894435
openSNPrs104894435
23andMers104894435
23andMe allrs104894435
SNP Nexus

SNPshotrs104894435
SNPdbers104894435
MSV3drs104894435
GWAS Ctlgrs104894435
Max Magnitude4
OMIM600225
Desc
Variant0012
Relatedalso
ClinVar
Risk rs104894435(A;A)
Alt rs104894435(A;A)
Reference rs104894435(G;G)
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.55369059C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009864.3,