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rs137852235

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 5.5 Hemophilia B (severity varies)
(C;G) 3.5 Carrier of a Hemophilia B mutation
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
ChromosomeX
Position139548450
GeneF9
is asnp
is mentioned by
dbSNPrs137852235
dbSNP (classic)rs137852235
ClinGenrs137852235
ebirs137852235
HLIrs137852235
Exacrs137852235
Gnomadrs137852235
Varsomers137852235
LitVarrs137852235
Maprs137852235
PheGenIrs137852235
Biobankrs137852235
1000 genomesrs137852235
hgdprs137852235
ensemblrs137852235
geneviewrs137852235
scholarrs137852235
googlers137852235
pharmgkbrs137852235
gwascentralrs137852235
openSNPrs137852235
23andMers137852235
SNPshotrs137852235
SNPdbers137852235
MSV3drs137852235
GWAS Ctlgrs137852235
Max Magnitude5.5
OMIM300746
Desc
Variant0024
Relatedalso
ClinVar
Risk Rs137852235(C;C)
Alt Rs137852235(C;C)
Reference Rs137852235(G;G)
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.138630609G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000011327.4,