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rs121918477

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121918477(C;T)
Make rs121918477(T;T)
ReferenceGRCh38 38.1/141
Chromosome11
Position46726563
GeneF2
is asnp
is mentioned by
dbSNPrs121918477
dbSNP (classic)rs121918477
ClinGenrs121918477
ebirs121918477
HLIrs121918477
Exacrs121918477
Gnomadrs121918477
Varsomers121918477
LitVarrs121918477
Maprs121918477
PheGenIrs121918477
Biobankrs121918477
1000 genomesrs121918477
hgdprs121918477
ensemblrs121918477
geneviewrs121918477
scholarrs121918477
googlers121918477
pharmgkbrs121918477
gwascentralrs121918477
openSNPrs121918477
23andMers121918477
SNPshotrs121918477
SNPdbers121918477
MSV3drs121918477
GWAS Ctlgrs121918477
Max Magnitude0
OMIM176930
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121918477(T;T)
Alt rs121918477(T;T)
Reference Rs121918477(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.46748113C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000014230.17,