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rs375422404

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 carrier of factor XI mutation
(T;T) 5 Factor XI deficiency
ReferenceGRCh38.p7 38.3/149
Chromosome4
Position186286423
GeneF11, F11-AS1
is asnp
is mentioned by
dbSNPrs375422404
dbSNP (classic)rs375422404
ClinGenrs375422404
ebirs375422404
HLIrs375422404
Exacrs375422404
Gnomadrs375422404
Varsomers375422404
LitVarrs375422404
Maprs375422404
PheGenIrs375422404
Biobankrs375422404
1000 genomesrs375422404
hgdprs375422404
ensemblrs375422404
geneviewrs375422404
scholarrs375422404
googlers375422404
pharmgkbrs375422404
gwascentralrs375422404
openSNPrs375422404
23andMers375422404
23andMe allrs375422404
SNPshotrs375422404
SNPdbers375422404
MSV3drs375422404
GWAS Ctlgrs375422404
Max Magnitude5

aka c.1489C>T (p.Arg497Ter)

23andMe name: i6009851

ClinVar
Risk Rs375422404(T;T)
Alt Rs375422404(T;T)
Reference Rs375422404(C;C)
Significance Pathogenic
Disease not provided
Variation info
Gene F11-AS1 F11
CLNDBN not provided
Reversed 0
HGVS NC_000004.11:g.187207577C>T
CLNSRC
CLNACC RCV000349831.1,