Rs104894440

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Orientationminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894440(A;C)
Make rs104894440(C;C)
ReferenceGRCh38 38.1/141
Chromosome14
Position54865349
GeneGCH1
is asnp
is mentioned by
dbSNPrs104894440
PheGenIrs104894440
nextbiors104894440
hapmaprs104894440
1000 genomesrs104894440
hgdprs104894440
ensemblrs104894440
gopubmedrs104894440
geneviewrs104894440
scholarrs104894440
googlers104894440
pharmgkbrs104894440
gwascentralrs104894440
openSNPrs104894440
23andMers104894440
23andMe allrs104894440
SNP Nexus

SNPshotrs104894440
SNPdbers104894440
MSV3drs104894440
Max Magnitude0
OMIM600225
Desc
Variant0008
Relatedalso
ClinVar
Risk rs104894440(C;C)
Alt rs104894440(C;C)
Reference rs104894440(A;A)
Significance Pathogenic
Disease Dystonia 5
Variation info
Gene GCH1
CLNDBN Dystonia 5, Dopa-responsive type
Reversed 1
HGVS NC_000014.8:g.55332067T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000009860.1,