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rs373297713

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 5 factor XI deficiency
(A;G) 3 carrier of coagulation Factor XI mutation
(G;G) 0 common/normal
ReferenceGRCh38 38.1/142
Chromosome4
Position186287824
GeneF11, F11-AS1
is asnp
is mentioned by
dbSNPrs373297713
ebirs373297713
HLIrs373297713
Exacrs373297713
Varsomers373297713
Maprs373297713
PheGenIrs373297713
hapmaprs373297713
1000 genomesrs373297713
hgdprs373297713
ensemblrs373297713
gopubmedrs373297713
geneviewrs373297713
scholarrs373297713
googlers373297713
pharmgkbrs373297713
gwascentralrs373297713
openSNPrs373297713
23andMers373297713
23andMe allrs373297713
SNP Nexus

SNPshotrs373297713
SNPdbers373297713
MSV3drs373297713
GWAS Ctlgrs373297713
Max Magnitude5
rs373297713, better known as IVS14+1G>A or IVS14DS, G-A, +1, 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 found in Ashkenazi Jews; it is termed i4000397 by 23andMe.

See OMIM 264900.0001

OMIM264900
Desc
Variant0001
Relatedalso
ClinVar
Risk rs373297713(A;A)
Alt rs373297713(A;A)
Reference rs373297713(G;G)
Significance Pathogenic
Disease Hereditary factor XI deficiency disease
Variation info
Gene F11-AS1 F11
CLNDBN Hereditary factor XI deficiency disease
Reversed 0
HGVS NC_000004.11:g.187208978G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012665.25,