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rs587777413

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(G;G) 0 common in clinvar
Make rs587777413(C;G)
ReferenceGRCh38 38.1/142
Chromosome6
Position83170343
GeneDOPEY1, PGM3
is asnp
is mentioned by
dbSNPrs587777413
dbSNP (classic)rs587777413
ClinGenrs587777413
ebirs587777413
HLIrs587777413
Exacrs587777413
Gnomadrs587777413
Varsomers587777413
LitVarrs587777413
Maprs587777413
PheGenIrs587777413
Biobankrs587777413
1000 genomesrs587777413
hgdprs587777413
ensemblrs587777413
geneviewrs587777413
scholarrs587777413
googlers587777413
pharmgkbrs587777413
gwascentralrs587777413
openSNPrs587777413
23andMers587777413
SNPshotrs587777413
SNPdbers587777413
MSV3drs587777413
GWAS Ctlgrs587777413
Max Magnitude0
ClinVar
Risk Rs587777413(C;C)
Alt Rs587777413(C;C)
Reference Rs587777413(G;G)
Significance Pathogenic
Disease Immunodeficiency 23
Variation info
Gene DOPEY1 PGM3
CLNDBN Immunodeficiency 23
Reversed 1
HGVS NC_000006.11:g.83880062C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000119828.4,