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

rs137852234

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3.5 Carrier of a Hemophilia B mutation
(G;G) 5.5 Hemophilia B (severity varies)
ReferenceGRCh38 38.1/141
ChromosomeX
Position139541127
GeneF9
is asnp
is mentioned by
dbSNPrs137852234
dbSNP (classic)rs137852234
ClinGenrs137852234
ebirs137852234
HLIrs137852234
Exacrs137852234
Gnomadrs137852234
Varsomers137852234
LitVarrs137852234
Maprs137852234
PheGenIrs137852234
Biobankrs137852234
1000 genomesrs137852234
hgdprs137852234
ensemblrs137852234
geneviewrs137852234
scholarrs137852234
googlers137852234
pharmgkbrs137852234
gwascentralrs137852234
openSNPrs137852234
23andMers137852234
SNPshotrs137852234
SNPdbers137852234
MSV3drs137852234
GWAS Ctlgrs137852234
Max Magnitude5.5
OMIM300746
Desc
Variant0023
Relatedalso
ClinVar
Risk Rs137852234(G;G)
Alt Rs137852234(G;G)
Reference Rs137852234(A;A)
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.138623286A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000011326.4,