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rs121918031

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918031(A;A)
Make rs121918031(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position160738583
GenePLG
is asnp
is mentioned by
dbSNPrs121918031
dbSNP (classic)rs121918031
ClinGenrs121918031
ebirs121918031
HLIrs121918031
Exacrs121918031
Gnomadrs121918031
Varsomers121918031
LitVarrs121918031
Maprs121918031
PheGenIrs121918031
Biobankrs121918031
1000 genomesrs121918031
hgdprs121918031
ensemblrs121918031
geneviewrs121918031
scholarrs121918031
googlers121918031
pharmgkbrs121918031
gwascentralrs121918031
openSNPrs121918031
23andMers121918031
SNPshotrs121918031
SNPdbers121918031
MSV3drs121918031
GWAS Ctlgrs121918031
Max Magnitude0
OMIM173350
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121918031(A;A) rs121918031(C;C)
Alt rs121918031(A;A) rs121918031(C;C)
Reference Rs121918031(G;G)
Significance Pathogenic
Disease Plasminogen deficiency
Variation info
Gene PLG
CLNDBN Plasminogen deficiency, type I
Reversed 0
HGVS NC_000006.11:g.161159615G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000014546.25,