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rs121918480

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121918480(G;T)
Make rs121918480(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position46739341
GeneF2
is asnp
is mentioned by
dbSNPrs121918480
dbSNP (classic)rs121918480
ClinGenrs121918480
ebirs121918480
HLIrs121918480
Exacrs121918480
Gnomadrs121918480
Varsomers121918480
LitVarrs121918480
Maprs121918480
PheGenIrs121918480
Biobankrs121918480
1000 genomesrs121918480
hgdprs121918480
ensemblrs121918480
geneviewrs121918480
scholarrs121918480
googlers121918480
pharmgkbrs121918480
gwascentralrs121918480
openSNPrs121918480
23andMers121918480
SNPshotrs121918480
SNPdbers121918480
MSV3drs121918480
GWAS Ctlgrs121918480
Max Magnitude0
OMIM176930
Desc
Variant0005
Relatedalso
ClinVar
Risk rs121918480(T;T)
Alt rs121918480(T;T)
Reference Rs121918480(G;G)
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.46760891G>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014233.23,