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rs1057516431

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 5 Factor XI deficiency
(-;AC) 3 carrier of factor XI mutation
(AC;AC) 0 common/normal
(CA;CA) 0 common in clinvar
ReferenceGRCh38.p7 38.3/150
Chromosome4
Position186280321
GeneF11
is asnp
is mentioned by
dbSNPrs1057516431
dbSNP (classic)rs1057516431
ClinGenrs1057516431
ebirs1057516431
HLIrs1057516431
Exacrs1057516431
Gnomadrs1057516431
Varsomers1057516431
LitVarrs1057516431
Maprs1057516431
PheGenIrs1057516431
Biobankrs1057516431
1000 genomesrs1057516431
hgdprs1057516431
ensemblrs1057516431
geneviewrs1057516431
scholarrs1057516431
googlers1057516431
pharmgkbrs1057516431
gwascentralrs1057516431
openSNPrs1057516431
23andMers1057516431
SNPshotrs1057516431
SNPdbers1057516431
MSV3drs1057516431
GWAS Ctlgrs1057516431
Max Magnitude5
ClinVar
Risk Rs1057516431(-;-)
Alt Rs1057516431(-;-)
Reference Rs1057516431(CA;CA)
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.187201475_187201476delAC
CLNSRC
CLNACC RCV000410660.1,