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rs137852273

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852273(C;C)
Make rs137852273(C;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position139561872
GeneF9
is asnp
is mentioned by
dbSNPrs137852273
dbSNP (classic)rs137852273
ClinGenrs137852273
ebirs137852273
HLIrs137852273
Exacrs137852273
Gnomadrs137852273
Varsomers137852273
LitVarrs137852273
Maprs137852273
PheGenIrs137852273
Biobankrs137852273
1000 genomesrs137852273
hgdprs137852273
ensemblrs137852273
geneviewrs137852273
scholarrs137852273
googlers137852273
pharmgkbrs137852273
gwascentralrs137852273
openSNPrs137852273
23andMers137852273
SNPshotrs137852273
SNPdbers137852273
MSV3drs137852273
GWAS Ctlgrs137852273
Max Magnitude0
OMIM300746
Desc
Variant0086
Relatedalso
ClinVar
Risk rs137852273(C;C)
Alt rs137852273(C;C)
Reference Rs137852273(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.138644031G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000011388.2,