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rs121918034

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AAG;AAG) 0 common in clinvar
(GAA;GAA) 0 common in clinvar
(I;I) 0 common genotype
Make rs121918034(-;-)
Make rs121918034(-;AAG)
ReferenceGRCh38 38.1/141
Chromosome6
Position160716667
GenePLG
is asnp
is mentioned by
dbSNPrs121918034
dbSNP (classic)rs121918034
ClinGenrs121918034
ebirs121918034
HLIrs121918034
Exacrs121918034
Gnomadrs121918034
Varsomers121918034
LitVarrs121918034
Maprs121918034
PheGenIrs121918034
Biobankrs121918034
1000 genomesrs121918034
hgdprs121918034
ensemblrs121918034
geneviewrs121918034
scholarrs121918034
googlers121918034
pharmgkbrs121918034
gwascentralrs121918034
openSNPrs121918034
23andMers121918034
SNPshotrs121918034
SNPdbers121918034
MSV3drs121918034
GWAS Ctlgrs121918034
Max Magnitude0
OMIM173350
Desc
Variant0008
Relatedalso
ClinVar
Risk rs121918034(-;-)
Alt rs121918034(-;-)
Reference Rs121918034(GAA;GAA)
Significance Pathogenic
Disease Plasminogen deficiency
Variation info
Gene PLG
CLNDBN Plasminogen deficiency, type I
Reversed 0
HGVS NC_000006.11:g.161137699_161137701delAAG
CLNSRC OMIM Allelic Variant
CLNACC RCV000014549.25,