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rs121918479

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918479(C;T)
Make rs121918479(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position46728138
GeneF2
is asnp
is mentioned by
dbSNPrs121918479
dbSNP (classic)rs121918479
ClinGenrs121918479
ebirs121918479
HLIrs121918479
Exacrs121918479
Gnomadrs121918479
Varsomers121918479
LitVarrs121918479
Maprs121918479
PheGenIrs121918479
Biobankrs121918479
1000 genomesrs121918479
hgdprs121918479
ensemblrs121918479
geneviewrs121918479
scholarrs121918479
googlers121918479
pharmgkbrs121918479
gwascentralrs121918479
openSNPrs121918479
23andMers121918479
SNPshotrs121918479
SNPdbers121918479
MSV3drs121918479
GWAS Ctlgrs121918479
Max Magnitude0
OMIM176930
Desc
Variant0004
Relatedalso
ClinVar
Risk rs121918479(T;T)
Alt rs121918479(T;T)
Reference Rs121918479(C;C)
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.46749688C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014232.25,