Rs104894442

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Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs104894442(C;C)
Make rs104894442(C;G)
ReferenceGRCh38 38.1/141
Chromosome14
Position54844023
GeneGCH1
is asnp
is mentioned by
dbSNPrs104894442
PheGenIrs104894442
nextbiors104894442
hapmaprs104894442
1000 genomesrs104894442
hgdprs104894442
ensemblrs104894442
gopubmedrs104894442
geneviewrs104894442
scholarrs104894442
googlers104894442
pharmgkbrs104894442
gwascentralrs104894442
openSNPrs104894442
23andMers104894442
23andMe allrs104894442
SNP Nexus

SNPshotrs104894442
SNPdbers104894442
MSV3drs104894442
Max Magnitude0
OMIM600225
Desc
Variant0016
Relatedalso
ClinVar
Risk rs104894442(C;C)
Alt rs104894442(C;C)
Reference rs104894442(G;G)
Significance Pathogenic
Disease Dystonia
Variation info
Gene GCH1
CLNDBN Dystonia, dopa-responsive, with or without hyperphenylalaninemia, autosomal recessive
Reversed 1
HGVS NC_000014.8:g.55310741C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000009869.1,