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rs137852260

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 5.5 Hemophilia B (severity varies)
(C;T) 3.5 Carrier of a Hemophilia B mutation
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
ChromosomeX
Position139561829
GeneF9
is asnp
is mentioned by
dbSNPrs137852260
dbSNP (classic)rs137852260
ClinGenrs137852260
ebirs137852260
HLIrs137852260
Exacrs137852260
Gnomadrs137852260
Varsomers137852260
LitVarrs137852260
Maprs137852260
PheGenIrs137852260
Biobankrs137852260
1000 genomesrs137852260
hgdprs137852260
ensemblrs137852260
geneviewrs137852260
scholarrs137852260
googlers137852260
pharmgkbrs137852260
gwascentralrs137852260
openSNPrs137852260
23andMers137852260
SNPshotrs137852260
SNPdbers137852260
MSV3drs137852260
GWAS Ctlgrs137852260
Max Magnitude5.5
OMIM300746
Desc
Variant0057
Relatedalso
ClinVar
Risk rs137852260(A;A) Rs137852260(C;C)
Alt rs137852260(A;A) Rs137852260(C;C)
Reference Rs137852260(T;T)
Significance Pathogenic
Disease Hereditary factor IX deficiency disease
Variation info
Gene F9
CLNDBN Hereditary factor IX deficiency disease
Reversed 0
HGVS NC_000023.10:g.138643988T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000011360.5,