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rs137852253

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852253(C;C)
Make rs137852253(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position139561694
GeneF9
is asnp
is mentioned by
dbSNPrs137852253
dbSNP (classic)rs137852253
ClinGenrs137852253
ebirs137852253
HLIrs137852253
Exacrs137852253
Gnomadrs137852253
Varsomers137852253
LitVarrs137852253
Maprs137852253
PheGenIrs137852253
Biobankrs137852253
1000 genomesrs137852253
hgdprs137852253
ensemblrs137852253
geneviewrs137852253
scholarrs137852253
googlers137852253
pharmgkbrs137852253
gwascentralrs137852253
openSNPrs137852253
23andMers137852253
SNPshotrs137852253
SNPdbers137852253
MSV3drs137852253
GWAS Ctlgrs137852253
Max Magnitude0
OMIM300746
Desc
Variant0049
Relatedalso
ClinVar
Risk rs137852253(C;C)
Alt rs137852253(C;C)
Reference Rs137852253(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.138643853G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000011352.5,