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rs1057516616

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 5 Factor XI deficiency
(-;CATT) 3 carrier of factor XI mutation
(CATT;CATT) 0 common in clinvar
ReferenceGRCh38.p7 38.3/150
Chromosome4
Position186267161
GeneF11
is asnp
is mentioned by
dbSNPrs1057516616
dbSNP (classic)rs1057516616
ClinGenrs1057516616
ebirs1057516616
HLIrs1057516616
Exacrs1057516616
Gnomadrs1057516616
Varsomers1057516616
LitVarrs1057516616
Maprs1057516616
PheGenIrs1057516616
Biobankrs1057516616
1000 genomesrs1057516616
hgdprs1057516616
ensemblrs1057516616
geneviewrs1057516616
scholarrs1057516616
googlers1057516616
pharmgkbrs1057516616
gwascentralrs1057516616
openSNPrs1057516616
23andMers1057516616
SNPshotrs1057516616
SNPdbers1057516616
MSV3drs1057516616
GWAS Ctlgrs1057516616
Max Magnitude5
ClinVar
Risk Rs1057516616(-;-)
Alt Rs1057516616(-;-)
Reference Rs1057516616(CATT;CATT)
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.187188315_187188318delCATT
CLNSRC
CLNACC RCV000411987.1,