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rs104894438

From SNPedia

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


Make rs104894438(A;A)
ReferenceGRCh38 38.1/141
Chromosome14
Position54845792
GeneGCH1
is asnp
is mentioned by
dbSNPrs104894438
ebirs104894438
HLIrs104894438
Exacrs104894438
Varsomers104894438
Maprs104894438
PheGenIrs104894438
hapmaprs104894438
1000 genomesrs104894438
hgdprs104894438
ensemblrs104894438
gopubmedrs104894438
geneviewrs104894438
scholarrs104894438
googlers104894438
pharmgkbrs104894438
gwascentralrs104894438
openSNPrs104894438
23andMers104894438
23andMe allrs104894438
SNP Nexus

SNPshotrs104894438
SNPdbers104894438
MSV3drs104894438
GWAS Ctlgrs104894438
Max Magnitude4
OMIM600225
Desc
Variant0004
Relatedalso
ClinVar
Risk rs104894438(A;A)
Alt rs104894438(A;A)
Reference rs104894438(G;G)
Significance Pathogenic
Disease Dystonia 5
Variation info
Gene GCH1
CLNDBN Dystonia 5, Dopa-responsive type
Reversed 1
HGVS NC_000014.8:g.55312510C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009856.3,