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rs200891969

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs200891969(C;T)
Make rs200891969(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome14
Position54845784
GeneGCH1
is asnp
is mentioned by
dbSNPrs200891969
dbSNP (old)rs200891969
ClinGenrs200891969
ebirs200891969
HLIrs200891969
Exacrs200891969
Gnomadrs200891969
Varsomers200891969
Maprs200891969
PheGenIrs200891969
Biobankrs200891969
1000 genomesrs200891969
hgdprs200891969
ensemblrs200891969
gopubmedrs200891969
geneviewrs200891969
scholarrs200891969
googlers200891969
pharmgkbrs200891969
gwascentralrs200891969
openSNPrs200891969
23andMers200891969
23andMe allrs200891969
SNPshotrs200891969
SNPdbers200891969
MSV3drs200891969
GWAS Ctlgrs200891969
Max Magnitude0
ClinVar
Risk rs200891969(T;T)
Alt rs200891969(T;T)
Reference Rs200891969(C;C)
Significance Probable-Pathogenic
Disease Dystonia not specified not provided
Variation info
Gene GCH1
CLNDBN Dystonia, dopa-responsive not specified not provided
Reversed 0
HGVS NC_000014.8:g.55312502C>T
CLNSRC
CLNACC RCV000148506.1, RCV000178722.1, RCV000489411.1,