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rs104894442

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 4 dystonia due to autosomal recessive GCH1 mutation
(C;G) 3 Carrier of a dopa-responsive dystonia mutation
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome14
Position54844023
GeneGCH1
is asnp
is mentioned by
dbSNPrs104894442
dbSNP (classic)rs104894442
ClinGenrs104894442
ebirs104894442
HLIrs104894442
Exacrs104894442
Gnomadrs104894442
Varsomers104894442
LitVarrs104894442
Maprs104894442
PheGenIrs104894442
Biobankrs104894442
1000 genomesrs104894442
hgdprs104894442
ensemblrs104894442
geneviewrs104894442
scholarrs104894442
googlers104894442
pharmgkbrs104894442
gwascentralrs104894442
openSNPrs104894442
23andMers104894442
SNPshotrs104894442
SNPdbers104894442
MSV3drs104894442
GWAS Ctlgrs104894442
Max Magnitude4
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 UniProtKB (protein)
CLNACC RCV000009869.2,