Rs104894437

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Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894437(A;T)
Make rs104894437(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position54865379
GeneGCH1
is asnp
is mentioned by
dbSNPrs104894437
Exacrs104894437
PheGenIrs104894437
nextbiors104894437
hapmaprs104894437
1000 genomesrs104894437
hgdprs104894437
ensemblrs104894437
gopubmedrs104894437
geneviewrs104894437
scholarrs104894437
googlers104894437
pharmgkbrs104894437
gwascentralrs104894437
openSNPrs104894437
23andMers104894437
23andMe allrs104894437
SNP Nexus

SNPshotrs104894437
SNPdbers104894437
MSV3drs104894437
Max Magnitude0
OMIM600225
Desc
Variant0002
Relatedalso
ClinVar
Risk rs104894437(T;T)
Alt rs104894437(T;T)
Reference rs104894437(A;A)
Significance Pathogenic
Disease Dystonia 5
Variation info
Gene GCH1
CLNDBN Dystonia 5, Dopa-responsive type
Reversed 1
HGVS NC_000014.8:g.55332097T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009854.1,