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rs121918478

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918478(C;T)
Make rs121918478(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position46728746
GeneF2
is asnp
is mentioned by
dbSNPrs121918478
dbSNP (old)rs121918478
ClinGenrs121918478
ebirs121918478
HLIrs121918478
Exacrs121918478
Gnomadrs121918478
Varsomers121918478
Maprs121918478
PheGenIrs121918478
Biobankrs121918478
1000 genomesrs121918478
hgdprs121918478
ensemblrs121918478
gopubmedrs121918478
geneviewrs121918478
scholarrs121918478
googlers121918478
pharmgkbrs121918478
gwascentralrs121918478
openSNPrs121918478
23andMers121918478
23andMe allrs121918478
SNP Nexus

SNPshotrs121918478
SNPdbers121918478
MSV3drs121918478
GWAS Ctlgrs121918478
Max Magnitude0
OMIM176930
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121918478(T;T)
Alt rs121918478(T;T)
Reference Rs121918478(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.46750296C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014231.25,