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rs587777562

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0 common in clinvar
Make rs587777562(C;C)
Make rs587777562(C;T)
ReferenceGRCh38 38.1/142
Chromosome6
Position83181786
GenePGM3
is asnp
is mentioned by
dbSNPrs587777562
ebirs587777562
HLIrs587777562
Exacrs587777562
Varsomers587777562
Maprs587777562
PheGenIrs587777562
hapmaprs587777562
1000 genomesrs587777562
hgdprs587777562
ensemblrs587777562
gopubmedrs587777562
geneviewrs587777562
scholarrs587777562
googlers587777562
pharmgkbrs587777562
gwascentralrs587777562
openSNPrs587777562
23andMers587777562
23andMe allrs587777562
SNP Nexus

SNPshotrs587777562
SNPdbers587777562
MSV3drs587777562
GWAS Ctlgrs587777562
Max Magnitude0
ClinVar
Risk rs587777562(C,T;C,T)
Alt rs587777562(C,T;C,T)
Reference rs587777562(A;A)
Significance Pathogenic
Disease Immunodeficiency 23
Variation info
Gene PGM3
CLNDBN Immunodeficiency 23
Reversed 1
HGVS NC_000006.11:g.83891505T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000128844.4,