Rs104894436

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Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894436(G;T)
Make rs104894436(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position54845808
GeneGCH1
is asnp
is mentioned by
dbSNPrs104894436
PheGenIrs104894436
nextbiors104894436
hapmaprs104894436
1000 genomesrs104894436
hgdprs104894436
ensemblrs104894436
gopubmedrs104894436
geneviewrs104894436
scholarrs104894436
googlers104894436
pharmgkbrs104894436
gwascentralrs104894436
openSNPrs104894436
23andMers104894436
23andMe allrs104894436
SNP Nexus

SNPshotrs104894436
SNPdbers104894436
MSV3drs104894436
Max Magnitude0
OMIM600225
Desc
Variant0014
Relatedalso
ClinVar
Risk rs104894436(T;T)
Alt rs104894436(T;T)
Reference rs104894436(G;G)
Significance Pathogenic
Disease Dystonia 5
Variation info
Gene GCH1
CLNDBN Dystonia 5, Dopa-responsive type
Reversed 1
HGVS NC_000014.8:g.55312526C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009867.1,