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rs121918027

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918027(A;A)
Make rs121918027(A;G)
ReferenceGRCh38 38.1/141
Chromosome6
Position160738593
GenePLG
is asnp
is mentioned by
dbSNPrs121918027
dbSNP (classic)rs121918027
ClinGenrs121918027
ebirs121918027
HLIrs121918027
Exacrs121918027
Gnomadrs121918027
Varsomers121918027
LitVarrs121918027
Maprs121918027
PheGenIrs121918027
Biobankrs121918027
1000 genomesrs121918027
hgdprs121918027
ensemblrs121918027
geneviewrs121918027
scholarrs121918027
googlers121918027
pharmgkbrs121918027
gwascentralrs121918027
openSNPrs121918027
23andMers121918027
SNPshotrs121918027
SNPdbers121918027
MSV3drs121918027
GWAS Ctlgrs121918027
GMAF0.006428
Max Magnitude0
OMIM173350
Desc
Variant0001
Relatedalso
ClinVar
Risk rs121918027(A;A)
Alt rs121918027(A;A)
Reference Rs121918027(G;G)
Significance Pathogenic
Disease Dysplasminogenemia Plasminogen deficiency
Variation info
Gene PLG
CLNDBN Dysplasminogenemia Plasminogen deficiency, type I
Reversed 0
HGVS NC_000006.11:g.161159625G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014542.25, RCV000490289.1,