Rs104894441

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Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs104894441(A;A)
Make rs104894441(A;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position54865376
GeneGCH1
is asnp
is mentioned by
dbSNPrs104894441
PheGenIrs104894441
nextbiors104894441
hapmaprs104894441
1000 genomesrs104894441
hgdprs104894441
ensemblrs104894441
gopubmedrs104894441
geneviewrs104894441
scholarrs104894441
googlers104894441
pharmgkbrs104894441
gwascentralrs104894441
openSNPrs104894441
23andMers104894441
23andMe allrs104894441
SNP Nexus

SNPshotrs104894441
SNPdbers104894441
MSV3drs104894441
Max Magnitude0
OMIM600225
Desc
Variant0015
Relatedalso
ClinVar
Risk rs104894441(A;A)
Alt rs104894441(A;A)
Reference rs104894441(T;T)
Significance Pathogenic
Disease Dystonia 5
Variation info
Gene GCH1
CLNDBN Dystonia 5, Dopa-responsive type
Reversed 1
HGVS NC_000014.8:g.55332094A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009868.1,