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rs137852248

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3.5 Carrier of a Hemophilia B mutation
(T;T) 5.5 Hemophilia B (severity varies)
ReferenceGRCh38 38.1/141
ChromosomeX
Position139561565
GeneF9
is asnp
is mentioned by
dbSNPrs137852248
dbSNP (classic)rs137852248
ClinGenrs137852248
ebirs137852248
HLIrs137852248
Exacrs137852248
Gnomadrs137852248
Varsomers137852248
LitVarrs137852248
Maprs137852248
PheGenIrs137852248
Biobankrs137852248
1000 genomesrs137852248
hgdprs137852248
ensemblrs137852248
geneviewrs137852248
scholarrs137852248
googlers137852248
pharmgkbrs137852248
gwascentralrs137852248
openSNPrs137852248
23andMers137852248
SNPshotrs137852248
SNPdbers137852248
MSV3drs137852248
GWAS Ctlgrs137852248
Max Magnitude5.5
OMIM300746
Desc
Variant0044
Relatedalso
ClinVar
Risk Rs137852248(T;T)
Alt Rs137852248(T;T)
Reference Rs137852248(C;C)
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.138643724C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011333.7,