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rs786204724

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 5 Factor XI deficiency
(A;C) 3 carrier of factor XI mutation
(C;C) 0 common in clinvar
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position186285646
GeneF11, F11-AS1
is asnp
is mentioned by
dbSNPrs786204724
dbSNP (classic)rs786204724
ClinGenrs786204724
ebirs786204724
HLIrs786204724
Exacrs786204724
Gnomadrs786204724
Varsomers786204724
LitVarrs786204724
Maprs786204724
PheGenIrs786204724
Biobankrs786204724
1000 genomesrs786204724
hgdprs786204724
ensemblrs786204724
geneviewrs786204724
scholarrs786204724
googlers786204724
pharmgkbrs786204724
gwascentralrs786204724
openSNPrs786204724
23andMers786204724
SNPshotrs786204724
SNPdbers786204724
MSV3drs786204724
GWAS Ctlgrs786204724
Max Magnitude5
ClinVar
Risk Rs786204724(A;A)
Alt Rs786204724(A;A)
Reference Rs786204724(C;C)
Significance Probable-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.187206800C>A
CLNSRC
CLNACC RCV000169556.1,