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rs1057517446

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 5 Factor XI deficiency
(CACT;CACT) 0 common in clinvar
(CTCA;CTCA) 0 common/normal
ReferenceGRCh38.p7 38.3/150
Chromosome4
Position186284188
GeneF11
is asnp
is mentioned by
dbSNPrs1057517446
dbSNP (classic)rs1057517446
ClinGenrs1057517446
ebirs1057517446
HLIrs1057517446
Exacrs1057517446
Gnomadrs1057517446
Varsomers1057517446
LitVarrs1057517446
Maprs1057517446
PheGenIrs1057517446
Biobankrs1057517446
1000 genomesrs1057517446
hgdprs1057517446
ensemblrs1057517446
geneviewrs1057517446
scholarrs1057517446
googlers1057517446
pharmgkbrs1057517446
gwascentralrs1057517446
openSNPrs1057517446
23andMers1057517446
SNPshotrs1057517446
SNPdbers1057517446
MSV3drs1057517446
GWAS Ctlgrs1057517446
Max Magnitude5
ClinVar
Risk Rs1057517446(-;-)
Alt Rs1057517446(-;-)
Reference Rs1057517446(CACT;CACT)
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.187205342_187205345delCTCA
CLNSRC
CLNACC RCV000411516.1,