Have questions? Visit https://www.reddit.com/r/SNPedia

rs137852244

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
Position139551250
GeneF9
is asnp
is mentioned by
dbSNPrs137852244
dbSNP (classic)rs137852244
ClinGenrs137852244
ebirs137852244
HLIrs137852244
Exacrs137852244
Gnomadrs137852244
Varsomers137852244
LitVarrs137852244
Maprs137852244
PheGenIrs137852244
Biobankrs137852244
1000 genomesrs137852244
hgdprs137852244
ensemblrs137852244
geneviewrs137852244
scholarrs137852244
googlers137852244
pharmgkbrs137852244
gwascentralrs137852244
openSNPrs137852244
23andMers137852244
SNPshotrs137852244
SNPdbers137852244
MSV3drs137852244
GWAS Ctlgrs137852244
Max Magnitude5.5
OMIM300746
Desc
Variant0035
Relatedalso
ClinVar
Risk Rs137852244(T;T)
Alt Rs137852244(T;T)
Reference Rs137852244(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.138633409C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011341.4,