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rs281875250

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.p7 38.3/150
Chromosome4
Position186288460
GeneF11, F11-AS1
is asnp
is mentioned by
dbSNPrs281875250
dbSNP (classic)rs281875250
ClinGenrs281875250
ebirs281875250
HLIrs281875250
Exacrs281875250
Gnomadrs281875250
Varsomers281875250
LitVarrs281875250
Maprs281875250
PheGenIrs281875250
Biobankrs281875250
1000 genomesrs281875250
hgdprs281875250
ensemblrs281875250
geneviewrs281875250
scholarrs281875250
googlers281875250
pharmgkbrs281875250
gwascentralrs281875250
openSNPrs281875250
23andMers281875250
23andMe allrs281875250
SNPshotrs281875250
SNPdbers281875250
MSV3drs281875250
GWAS Ctlgrs281875250
Max Magnitude5
ClinVar
Risk Rs281875250(T;T)
Alt Rs281875250(T;T)
Reference Rs281875250(C;C)
Significance Probable-Pathogenic
Disease not provided Hereditary factor XI deficiency disease
Variation info
Gene F11-AS1 F11
CLNDBN not provided Hereditary factor XI deficiency disease
Reversed 0
HGVS NC_000004.11:g.187209614C>T
CLNSRC UniProtKB (protein) UniProtKB (variants)
CLNACC RCV000059019.1, RCV000454166.1,