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rs121918481

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 2 Increased risk of dysprothrombinemia. Prothrombin Himi 1.
(T;T) 0.1 Normal. Not prothrombin Himi 1.
Make rs121918481(C;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position46728004
GeneF2
is asnp
is mentioned by
dbSNPrs121918481
dbSNP (classic)rs121918481
ClinGenrs121918481
ebirs121918481
HLIrs121918481
Exacrs121918481
Gnomadrs121918481
Varsomers121918481
LitVarrs121918481
Maprs121918481
PheGenIrs121918481
Biobankrs121918481
1000 genomesrs121918481
hgdprs121918481
ensemblrs121918481
geneviewrs121918481
scholarrs121918481
googlers121918481
pharmgkbrs121918481
gwascentralrs121918481
openSNPrs121918481
23andMers121918481
SNPshotrs121918481
SNPdbers121918481
MSV3drs121918481
GWAS Ctlgrs121918481
Max Magnitude2
OMIM176930
Desc
Variant0006
Relatedalso
ClinVar
Risk Rs121918481(C;C)
Alt Rs121918481(C;C)
Reference Rs121918481(T;T)
Significance Pathogenic
Disease Hereditary factor II deficiency disease
Variation info
Gene F2
CLNDBN Hereditary factor II deficiency disease
Reversed 0
HGVS NC_000011.9:g.46749554T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014234.17,