Have questions? Visit https://www.reddit.com/r/SNPedia

rs121965063

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 carrier of factor XI mutation
(T;T) 5 Factor XI deficiency
ReferenceGRCh38 38.1/141
Chromosome4
Position186274193
GeneF11
is asnp
is mentioned by
dbSNPrs121965063
ebirs121965063
HLIrs121965063
Exacrs121965063
Varsomers121965063
Maprs121965063
PheGenIrs121965063
hapmaprs121965063
1000 genomesrs121965063
hgdprs121965063
ensemblrs121965063
gopubmedrs121965063
geneviewrs121965063
scholarrs121965063
googlers121965063
pharmgkbrs121965063
gwascentralrs121965063
openSNPrs121965063
23andMers121965063
23andMe allrs121965063
SNP Nexus

SNPshotrs121965063
SNPdbers121965063
MSV3drs121965063
GWAS Ctlgrs121965063
Max Magnitude5

rs121965063, also known as E117X or Glu117Ter, is a SNP in the coagulation factor XI F11 gene.

This SNP is reported by 23andMe as one of the three most common factor XI deficiency-causing mutations in Ashkenazi Jews; it is reported as i4000398 by 23andMe.

OMIM264900
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121965063(T;T)
Alt rs121965063(T;T)
Reference rs121965063(G;G)
Significance Pathogenic
Disease Hereditary factor XI deficiency disease
Variation info
Gene F11
CLNDBN Hereditary factor XI deficiency disease
Reversed 0
HGVS NC_000004.11:g.187195347G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000012666.23,