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rs786204722

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 5 Factor XI deficiency
(-;G) 3 carrier of factor XI mutation
(G;G) 0 common in clinvar
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position186280265
GeneF11
is asnp
is mentioned by
dbSNPrs786204722
dbSNP (classic)rs786204722
ClinGenrs786204722
ebirs786204722
HLIrs786204722
Exacrs786204722
Gnomadrs786204722
Varsomers786204722
LitVarrs786204722
Maprs786204722
PheGenIrs786204722
Biobankrs786204722
1000 genomesrs786204722
hgdprs786204722
ensemblrs786204722
geneviewrs786204722
scholarrs786204722
googlers786204722
pharmgkbrs786204722
gwascentralrs786204722
openSNPrs786204722
23andMers786204722
SNPshotrs786204722
SNPdbers786204722
MSV3drs786204722
GWAS Ctlgrs786204722
Max Magnitude5
ClinVar
Risk Rs786204722(-;-)
Alt Rs786204722(-;-)
Reference Rs786204722(G;G)
Significance Probable-Pathogenic
Disease Hereditary factor XI deficiency disease
Variation info
Gene F11
CLNDBN Hereditary factor XI deficiency disease
Reversed 0
HGVS NC_000004.11:g.187201419delG
CLNSRC
CLNACC RCV000169545.1,