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rs139695003

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
Position186287720
GeneF11, F11-AS1
is asnp
is mentioned by
dbSNPrs139695003
dbSNP (classic)rs139695003
ClinGenrs139695003
ebirs139695003
HLIrs139695003
Exacrs139695003
Gnomadrs139695003
Varsomers139695003
LitVarrs139695003
Maprs139695003
PheGenIrs139695003
Biobankrs139695003
1000 genomesrs139695003
hgdprs139695003
ensemblrs139695003
geneviewrs139695003
scholarrs139695003
googlers139695003
pharmgkbrs139695003
gwascentralrs139695003
openSNPrs139695003
23andMers139695003
23andMe allrs139695003
SNPshotrs139695003
SNPdbers139695003
MSV3drs139695003
GWAS Ctlgrs139695003
Max Magnitude5
ClinVar
Risk rs139695003(A;A) Rs139695003(T;T)
Alt rs139695003(A;A) Rs139695003(T;T)
Reference Rs139695003(C;C)
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.187208874C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000169580.1,