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rs121965064

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 5 Factor XI deficiency
(C;T) 3 carrier of factor XI mutation
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome4
Position186280258
GeneF11
is asnp
is mentioned by
dbSNPrs121965064
ebirs121965064
HLIrs121965064
Exacrs121965064
Varsomers121965064
Maprs121965064
PheGenIrs121965064
hapmaprs121965064
1000 genomesrs121965064
hgdprs121965064
ensemblrs121965064
gopubmedrs121965064
geneviewrs121965064
scholarrs121965064
googlers121965064
pharmgkbrs121965064
gwascentralrs121965064
openSNPrs121965064
23andMers121965064
23andMe allrs121965064
SNP Nexus

SNPshotrs121965064
SNPdbers121965064
MSV3drs121965064
GWAS Ctlgrs121965064
Max Magnitude5

rs121965064, also known as F283L or Phe283Leu, is a SNP in the coagulation factor XI F11 gene.

This SNP is reported as one of the three most common factor XI-deficiency causing mutations in Ashkenazi Jews; it is reported as i4000399 by 23andMe.

OMIM264900
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121965064(C;C)
Alt rs121965064(C;C)
Reference rs121965064(T;T)
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.187201412T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000012667.15,