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rs587777415

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs587777415(A;C)
Make rs587777415(C;C)
ReferenceGRCh38 38.1/142
Chromosome6
Position83179864
GenePGM3
is asnp
is mentioned by
dbSNPrs587777415
ebirs587777415
HLIrs587777415
Exacrs587777415
Varsomers587777415
Maprs587777415
PheGenIrs587777415
hapmaprs587777415
1000 genomesrs587777415
hgdprs587777415
ensemblrs587777415
gopubmedrs587777415
geneviewrs587777415
scholarrs587777415
googlers587777415
pharmgkbrs587777415
gwascentralrs587777415
openSNPrs587777415
23andMers587777415
23andMe allrs587777415
SNP Nexus

SNPshotrs587777415
SNPdbers587777415
MSV3drs587777415
GWAS Ctlgrs587777415
Max Magnitude0
ClinVar
Risk rs587777415(A,C;A,C)
Alt rs587777415(A,C;A,C)
Reference rs587777415(T;T)
Significance Pathogenic
Disease Immunodeficiency 23
Variation info
Gene PGM3
CLNDBN Immunodeficiency 23
Reversed 1
HGVS NC_000006.11:g.83889583A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000119830.4,