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rs104894439

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;G) 4 dystonia due on GCH1 loss-of-function mutation
(G;G) 0 common in clinvar


Make rs104894439(C;C)
ReferenceGRCh38 38.1/141
Chromosome14
Position54902661
GeneGCH1
is asnp
is mentioned by
dbSNPrs104894439
ebirs104894439
HLIrs104894439
Exacrs104894439
Varsomers104894439
Maprs104894439
PheGenIrs104894439
hapmaprs104894439
1000 genomesrs104894439
hgdprs104894439
ensemblrs104894439
gopubmedrs104894439
geneviewrs104894439
scholarrs104894439
googlers104894439
pharmgkbrs104894439
gwascentralrs104894439
openSNPrs104894439
23andMers104894439
23andMe allrs104894439
SNP Nexus

SNPshotrs104894439
SNPdbers104894439
MSV3drs104894439
GWAS Ctlgrs104894439
Max Magnitude4
OMIM600225
Desc
Variant0007
Relatedalso
ClinVar
Risk rs104894439(C;C)
Alt rs104894439(C;C)
Reference rs104894439(G;G)
Significance Pathogenic
Disease Dystonia 5
Variation info
Gene GCH1
CLNDBN Dystonia 5, Dopa-responsive type
Reversed 1
HGVS NC_000014.8:g.55369379C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000009859.5,