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rs281875251

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 3 carrier of factor XI mutation
(T;T) 5 Factor XI deficiency
Make rs281875251(A;A)
Make rs281875251(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome4
Position186288525
GeneF11, F11-AS1
is asnp
is mentioned by
dbSNPrs281875251
dbSNP (classic)rs281875251
ClinGenrs281875251
ebirs281875251
HLIrs281875251
Exacrs281875251
Gnomadrs281875251
Varsomers281875251
LitVarrs281875251
Maprs281875251
PheGenIrs281875251
Biobankrs281875251
1000 genomesrs281875251
hgdprs281875251
ensemblrs281875251
geneviewrs281875251
scholarrs281875251
googlers281875251
pharmgkbrs281875251
gwascentralrs281875251
openSNPrs281875251
23andMers281875251
23andMe allrs281875251
SNPshotrs281875251
SNPdbers281875251
MSV3drs281875251
GWAS Ctlgrs281875251
Max Magnitude5

aka c.1789G>T (p.Glu597Ter) and also c.1789G>A (p.Glu597Lys); the former is pathogenic in ClinVar for Factor XI deficiency, but the latter is of uncertain significance

note that 23andMe tests the c.1789G>A VUS under the name i6009888

ClinVar
Risk rs281875251(A;A) Rs281875251(T;T)
Alt rs281875251(A;A) Rs281875251(T;T)
Reference Rs281875251(G;G)
Significance Probable-Pathogenic
Disease not provided Hereditary factor XI deficiency disease
Variation info
Gene F11
CLNDBN not provided Hereditary factor XI deficiency disease
Reversed 0
HGVS NC_000004.11:g.187209679G>A; NC_000004.11:g.187209679G>T
CLNSRC UniProtKB (protein) UniProtKB (variants)
CLNACC RCV000059020.1, RCV000411308.1,