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rs387906474

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
Position139530816
GeneF9
is asnp
is mentioned by
dbSNPrs387906474
dbSNP (classic)rs387906474
ClinGenrs387906474
ebirs387906474
HLIrs387906474
Exacrs387906474
Gnomadrs387906474
Varsomers387906474
LitVarrs387906474
Maprs387906474
PheGenIrs387906474
Biobankrs387906474
1000 genomesrs387906474
hgdprs387906474
ensemblrs387906474
geneviewrs387906474
scholarrs387906474
googlers387906474
pharmgkbrs387906474
gwascentralrs387906474
openSNPrs387906474
23andMers387906474
SNPshotrs387906474
SNPdbers387906474
MSV3drs387906474
GWAS Ctlgrs387906474
Max Magnitude5.5
ClinVar
Risk Rs387906474(C;C)
Alt Rs387906474(C;C)
Reference Rs387906474(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.138612975T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000011314.6,