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rs281875275

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 5 Factor XI deficiency
(A;G) 3 carrier of factor XI mutation
(G;G) 0 common in clinvar
ReferenceGRCh38.p2 38.2/144
Chromosome4
Position186287800
GeneF11, F11-AS1
is asnp
is mentioned by
dbSNPrs281875275
dbSNP (classic)rs281875275
ClinGenrs281875275
ebirs281875275
HLIrs281875275
Exacrs281875275
Gnomadrs281875275
Varsomers281875275
LitVarrs281875275
Maprs281875275
PheGenIrs281875275
Biobankrs281875275
1000 genomesrs281875275
hgdprs281875275
ensemblrs281875275
geneviewrs281875275
scholarrs281875275
googlers281875275
pharmgkbrs281875275
gwascentralrs281875275
openSNPrs281875275
23andMers281875275
SNPshotrs281875275
SNPdbers281875275
MSV3drs281875275
GWAS Ctlgrs281875275
Max Magnitude5
ClinVar
Risk Rs281875275(A;A)
Alt Rs281875275(A;A)
Reference Rs281875275(G;G)
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.187208954G>A
CLNSRC UniProtKB (protein) UniProtKB (variants)
CLNACC RCV000059018.1, RCV000169135.1,