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rs137852261

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
Position139561835
GeneF9
is asnp
is mentioned by
dbSNPrs137852261
dbSNP (classic)rs137852261
ClinGenrs137852261
ebirs137852261
HLIrs137852261
Exacrs137852261
Gnomadrs137852261
Varsomers137852261
LitVarrs137852261
Maprs137852261
PheGenIrs137852261
Biobankrs137852261
1000 genomesrs137852261
hgdprs137852261
ensemblrs137852261
geneviewrs137852261
scholarrs137852261
googlers137852261
pharmgkbrs137852261
gwascentralrs137852261
openSNPrs137852261
23andMers137852261
SNPshotrs137852261
SNPdbers137852261
MSV3drs137852261
GWAS Ctlgrs137852261
Max Magnitude5.5
OMIM300746
Desc
Variant0058
Relatedalso
ClinVar
Risk rs137852261(A;A) Rs137852261(T;T)
Alt rs137852261(A;A) Rs137852261(T;T)
Reference Rs137852261(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.138643994C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011361.4,