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rs143648758

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 5 Factor XI deficiency
(A;C) 3 carrier of factor XI mutation
(C;C) 0 common in clinvar
ReferenceGRCh38.p2 38.2/144
Chromosome4
Position186274198
GeneF11
is asnp
is mentioned by
dbSNPrs143648758
dbSNP (classic)rs143648758
ClinGenrs143648758
ebirs143648758
HLIrs143648758
Exacrs143648758
Gnomadrs143648758
Varsomers143648758
LitVarrs143648758
Maprs143648758
PheGenIrs143648758
Biobankrs143648758
1000 genomesrs143648758
hgdprs143648758
ensemblrs143648758
geneviewrs143648758
scholarrs143648758
googlers143648758
pharmgkbrs143648758
gwascentralrs143648758
openSNPrs143648758
23andMers143648758
SNPshotrs143648758
SNPdbers143648758
MSV3drs143648758
GWAS Ctlgrs143648758
Max Magnitude5
ClinVar
Risk Rs143648758(A;A)
Alt Rs143648758(A;A)
Reference Rs143648758(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.187195352C>A
CLNSRC
CLNACC RCV000169275.1,