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rs137852254

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852254(C;T)
Make rs137852254(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position139561710
GeneF9
is asnp
is mentioned by
dbSNPrs137852254
dbSNP (classic)rs137852254
ClinGenrs137852254
ebirs137852254
HLIrs137852254
Exacrs137852254
Gnomadrs137852254
Varsomers137852254
LitVarrs137852254
Maprs137852254
PheGenIrs137852254
Biobankrs137852254
1000 genomesrs137852254
hgdprs137852254
ensemblrs137852254
geneviewrs137852254
scholarrs137852254
googlers137852254
pharmgkbrs137852254
gwascentralrs137852254
openSNPrs137852254
23andMers137852254
SNPshotrs137852254
SNPdbers137852254
MSV3drs137852254
GWAS Ctlgrs137852254
Max Magnitude0
OMIM300746
Desc
Variant0050
Relatedalso
ClinVar
Risk rs137852254(T;T)
Alt rs137852254(T;T)
Reference Rs137852254(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.138643869C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000011353.7,