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rs1057516777

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
(-;G) 3 carrier of factor XI mutation
(G;G) 5 Factor XI deficiency
ReferenceGRCh38.p7 38.3/150
Chromosome4
Position186286494
GeneF11, F11-AS1
is asnp
is mentioned by
dbSNPrs1057516777
dbSNP (classic)rs1057516777
ClinGenrs1057516777
ebirs1057516777
HLIrs1057516777
Exacrs1057516777
Gnomadrs1057516777
Varsomers1057516777
LitVarrs1057516777
Maprs1057516777
PheGenIrs1057516777
Biobankrs1057516777
1000 genomesrs1057516777
hgdprs1057516777
ensemblrs1057516777
geneviewrs1057516777
scholarrs1057516777
googlers1057516777
pharmgkbrs1057516777
gwascentralrs1057516777
openSNPrs1057516777
23andMers1057516777
SNPshotrs1057516777
SNPdbers1057516777
MSV3drs1057516777
GWAS Ctlgrs1057516777
Max Magnitude5
ClinVar
Risk Rs1057516777(G;G)
Alt Rs1057516777(G;G)
Reference Rs1057516777(-;-)
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.187207648dupG
CLNSRC
CLNACC RCV000409880.1,