Rs104894444

From SNPedia
Jump to: navigation, search

Orientationminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104894444(C;T)
Make rs104894444(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position54902522
GeneGCH1
is asnp
is mentioned by
dbSNPrs104894444
Exacrs104894444
PheGenIrs104894444
nextbiors104894444
hapmaprs104894444
1000 genomesrs104894444
hgdprs104894444
ensemblrs104894444
gopubmedrs104894444
geneviewrs104894444
scholarrs104894444
googlers104894444
pharmgkbrs104894444
gwascentralrs104894444
openSNPrs104894444
23andMers104894444
23andMe allrs104894444
SNP Nexus

SNPshotrs104894444
SNPdbers104894444
MSV3drs104894444
Max Magnitude0
OMIM600225
Desc
Variant0018
Relatedalso
ClinVar
Risk rs104894444(T;T)
Alt rs104894444(T;T)
Reference rs104894444(C;C)
Significance Pathogenic
Disease Dystonia 5
Variation info
Gene GCH1
CLNDBN Dystonia 5, Dopa-responsive type
Reversed 1
HGVS NC_000014.8:g.55369240G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000009871.1,