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rs587777414

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TTAAG;TTAAG) 0 common in clinvar
Make rs587777414(-;-)
Make rs587777414(-;TTAAG)
ReferenceGRCh38 38.1/142
Chromosome6
Position83171944
GenePGM3
is asnp
is mentioned by
dbSNPrs587777414
ebirs587777414
HLIrs587777414
Exacrs587777414
Varsomers587777414
Maprs587777414
PheGenIrs587777414
hapmaprs587777414
1000 genomesrs587777414
hgdprs587777414
ensemblrs587777414
gopubmedrs587777414
geneviewrs587777414
scholarrs587777414
googlers587777414
pharmgkbrs587777414
gwascentralrs587777414
openSNPrs587777414
23andMers587777414
23andMe allrs587777414
SNP Nexus

SNPshotrs587777414
SNPdbers587777414
MSV3drs587777414
GWAS Ctlgrs587777414
Max Magnitude0
ClinVar
Risk rs587777414(;)
Alt rs587777414(;)
Reference rs587777414(TTAAG;TTAAG)
Significance Pathogenic
Disease Immunodeficiency 23
Variation info
Gene PGM3
CLNDBN Immunodeficiency 23
Reversed 0
HGVS NC_000006.11:g.83881663_83881667delTTAAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000119829.4,