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rs104894433

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 4 dystonia due on GCH1 loss-of-function mutation
Make rs104894433(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position54902402
GeneGCH1
is asnp
is mentioned by
dbSNPrs104894433
ebirs104894433
HLIrs104894433
Exacrs104894433
Varsomers104894433
Maprs104894433
PheGenIrs104894433
hapmaprs104894433
1000 genomesrs104894433
hgdprs104894433
ensemblrs104894433
gopubmedrs104894433
geneviewrs104894433
scholarrs104894433
googlers104894433
pharmgkbrs104894433
gwascentralrs104894433
openSNPrs104894433
23andMers104894433
23andMe allrs104894433
SNP Nexus

SNPshotrs104894433
SNPdbers104894433
MSV3drs104894433
GWAS Ctlgrs104894433
Max Magnitude4
OMIM600225
Desc
Variant0001
Relatedalso
ClinVar
Risk rs104894433(A,G,T;A,G,T)
Alt rs104894433(A,G,T;A,G,T)
Reference rs104894433(C;C)
Significance Pathogenic
Disease Dystonia 5
Variation info
Gene GCH1
CLNDBN Dystonia 5, Dopa-responsive type
Reversed 1
HGVS NC_000014.8:g.55369120G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009853.3,