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rs387906480

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 5.5 Hemophilia B (severity varies)
(A;T) 3.5 Carrier of a Hemophilia B mutation
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
ChromosomeX
Position139530795
GeneF9
is asnp
is mentioned by
dbSNPrs387906480
dbSNP (classic)rs387906480
ClinGenrs387906480
ebirs387906480
HLIrs387906480
Exacrs387906480
Gnomadrs387906480
Varsomers387906480
LitVarrs387906480
Maprs387906480
PheGenIrs387906480
Biobankrs387906480
1000 genomesrs387906480
hgdprs387906480
ensemblrs387906480
geneviewrs387906480
scholarrs387906480
googlers387906480
pharmgkbrs387906480
gwascentralrs387906480
openSNPrs387906480
23andMers387906480
SNPshotrs387906480
SNPdbers387906480
MSV3drs387906480
GWAS Ctlgrs387906480
Max Magnitude5.5
ClinVar
Risk Rs387906480(A;A)
Alt Rs387906480(A;A)
Reference Rs387906480(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.138612954T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011401.5,