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rs137852262

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
Position139561865
GeneF9
is asnp
is mentioned by
dbSNPrs137852262
dbSNP (classic)rs137852262
ClinGenrs137852262
ebirs137852262
HLIrs137852262
Exacrs137852262
Gnomadrs137852262
Varsomers137852262
LitVarrs137852262
Maprs137852262
PheGenIrs137852262
Biobankrs137852262
1000 genomesrs137852262
hgdprs137852262
ensemblrs137852262
geneviewrs137852262
scholarrs137852262
googlers137852262
pharmgkbrs137852262
gwascentralrs137852262
openSNPrs137852262
23andMers137852262
SNPshotrs137852262
SNPdbers137852262
MSV3drs137852262
GWAS Ctlgrs137852262
Max Magnitude5.5
OMIM300746
Desc
Variant0060
Relatedalso
ClinVar
Risk Rs137852262(G;G)
Alt Rs137852262(G;G)
Reference Rs137852262(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.138644024A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000011362.6,