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rs121918482

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918482(A;A)
Make rs121918482(A;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position46728157
GeneF2
is asnp
is mentioned by
dbSNPrs121918482
dbSNP (classic)rs121918482
ClinGenrs121918482
ebirs121918482
HLIrs121918482
Exacrs121918482
Gnomadrs121918482
Varsomers121918482
LitVarrs121918482
Maprs121918482
PheGenIrs121918482
Biobankrs121918482
1000 genomesrs121918482
hgdprs121918482
ensemblrs121918482
geneviewrs121918482
scholarrs121918482
googlers121918482
pharmgkbrs121918482
gwascentralrs121918482
openSNPrs121918482
23andMers121918482
SNPshotrs121918482
SNPdbers121918482
MSV3drs121918482
GWAS Ctlgrs121918482
Max Magnitude0
OMIM176930
Desc
Variant0007
Relatedalso
ClinVar
Risk rs121918482(A;A)
Alt rs121918482(A;A)
Reference Rs121918482(G;G)
Significance Pathogenic
Disease DYSPROTHROMBINEMIA PROTHROMBIN HIMI-II
Variation info
Gene F2
CLNDBN DYSPROTHROMBINEMIA PROTHROMBIN HIMI-II
Reversed 0
HGVS NC_000011.9:g.46749707G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014235.23,