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rs121918030

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918030(A;A)
Make rs121918030(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position160716680
GenePLG
is asnp
is mentioned by
dbSNPrs121918030
dbSNP (classic)rs121918030
ClinGenrs121918030
ebirs121918030
HLIrs121918030
Exacrs121918030
Gnomadrs121918030
Varsomers121918030
LitVarrs121918030
Maprs121918030
PheGenIrs121918030
Biobankrs121918030
1000 genomesrs121918030
hgdprs121918030
ensemblrs121918030
geneviewrs121918030
scholarrs121918030
googlers121918030
pharmgkbrs121918030
gwascentralrs121918030
openSNPrs121918030
23andMers121918030
SNPshotrs121918030
SNPdbers121918030
MSV3drs121918030
GWAS Ctlgrs121918030
Max Magnitude0
OMIM173350
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121918030(A;A)
Alt rs121918030(A;A)
Reference Rs121918030(G;G)
Significance Pathogenic
Disease Plasminogen deficiency
Variation info
Gene PLG
CLNDBN Plasminogen deficiency, type I
Reversed 0
HGVS NC_000006.11:g.161137712G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014545.25,