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rs587777416

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(ACT;ACT) 0 common in clinvar
(AGTT;AGTT) 0 common in clinvar
Make rs587777416(-;-)
Make rs587777416(-;ACT)
ReferenceGRCh38 38.1/142
Chromosome6
Position83178680
GenePGM3
is asnp
is mentioned by
dbSNPrs587777416
ebirs587777416
HLIrs587777416
Exacrs587777416
Varsomers587777416
Maprs587777416
PheGenIrs587777416
hapmaprs587777416
1000 genomesrs587777416
hgdprs587777416
ensemblrs587777416
gopubmedrs587777416
geneviewrs587777416
scholarrs587777416
googlers587777416
pharmgkbrs587777416
gwascentralrs587777416
openSNPrs587777416
23andMers587777416
23andMe allrs587777416
SNP Nexus

SNPshotrs587777416
SNPdbers587777416
MSV3drs587777416
GWAS Ctlgrs587777416
Max Magnitude0
ClinVar
Risk rs587777416(ACTT,T;ACTT,T)
Alt rs587777416(ACTT,T;ACTT,T)
Reference rs587777416(AGTT;AGTT)
Significance Pathogenic
Disease Immunodeficiency 23
Variation info
Gene PGM3
CLNDBN Immunodeficiency 23
Reversed 1
HGVS NC_000006.11:g.83888399_83888401delACT
CLNSRC OMIM Allelic Variant
CLNACC RCV000119831.4,