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rs752907087

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.p2 38.2/144
Chromosome4
Position186276317
GeneF11
is asnp
is mentioned by
dbSNPrs752907087
dbSNP (classic)rs752907087
ClinGenrs752907087
ebirs752907087
HLIrs752907087
Exacrs752907087
Gnomadrs752907087
Varsomers752907087
LitVarrs752907087
Maprs752907087
PheGenIrs752907087
Biobankrs752907087
1000 genomesrs752907087
hgdprs752907087
ensemblrs752907087
geneviewrs752907087
scholarrs752907087
googlers752907087
pharmgkbrs752907087
gwascentralrs752907087
openSNPrs752907087
23andMers752907087
SNPshotrs752907087
SNPdbers752907087
MSV3drs752907087
GWAS Ctlgrs752907087
Max Magnitude5
ClinVar
Risk Rs752907087(T;T)
Alt Rs752907087(T;T)
Reference Rs752907087(C;C)
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.187197471C>T
CLNSRC
CLNACC RCV000169125.1,