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rs137852278

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852278(C;C)
Make rs137852278(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position139561913
GeneF9
is asnp
is mentioned by
dbSNPrs137852278
dbSNP (classic)rs137852278
ClinGenrs137852278
ebirs137852278
HLIrs137852278
Exacrs137852278
Gnomadrs137852278
Varsomers137852278
LitVarrs137852278
Maprs137852278
PheGenIrs137852278
Biobankrs137852278
1000 genomesrs137852278
hgdprs137852278
ensemblrs137852278
geneviewrs137852278
scholarrs137852278
googlers137852278
pharmgkbrs137852278
gwascentralrs137852278
openSNPrs137852278
23andMers137852278
SNPshotrs137852278
SNPdbers137852278
MSV3drs137852278
GWAS Ctlgrs137852278
Max Magnitude0
OMIM300746
Desc
Variant0095
Relatedalso
ClinVar
Risk rs137852278(C;C)
Alt rs137852278(C;C)
Reference Rs137852278(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.138644072G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000011397.2,