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rs886039378

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs886039378(-;-)
Make rs886039378(-;G)
ReferenceGRCh38.p7 38.3/149
Chromosome14
Position54845784
GeneGCH1
is asnp
is mentioned by
dbSNPrs886039378
dbSNP (classic)rs886039378
ClinGenrs886039378
ebirs886039378
HLIrs886039378
Exacrs886039378
Gnomadrs886039378
Varsomers886039378
LitVarrs886039378
Maprs886039378
PheGenIrs886039378
Biobankrs886039378
1000 genomesrs886039378
hgdprs886039378
ensemblrs886039378
geneviewrs886039378
scholarrs886039378
googlers886039378
pharmgkbrs886039378
gwascentralrs886039378
openSNPrs886039378
23andMers886039378
SNPshotrs886039378
SNPdbers886039378
MSV3drs886039378
GWAS Ctlgrs886039378
Max Magnitude0
ClinVar
Risk rs886039378(-;-)
Alt rs886039378(-;-)
Reference Rs886039378(G;G)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene GCH1
CLNDBN not provided
Reversed 1
HGVS NC_000014.8:g.55312502delC
CLNSRC
CLNACC RCV000255434.2,