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rs137852247

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852247(A;A)
Make rs137852247(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position139560852
GeneF9
is asnp
is mentioned by
dbSNPrs137852247
dbSNP (classic)rs137852247
ClinGenrs137852247
ebirs137852247
HLIrs137852247
Exacrs137852247
Gnomadrs137852247
Varsomers137852247
LitVarrs137852247
Maprs137852247
PheGenIrs137852247
Biobankrs137852247
1000 genomesrs137852247
hgdprs137852247
ensemblrs137852247
geneviewrs137852247
scholarrs137852247
googlers137852247
pharmgkbrs137852247
gwascentralrs137852247
openSNPrs137852247
23andMers137852247
SNPshotrs137852247
SNPdbers137852247
MSV3drs137852247
GWAS Ctlgrs137852247
Max Magnitude0
OMIM300746
Desc
Variant0042
Relatedalso
ClinVar
Risk rs137852247(A;A)
Alt rs137852247(A;A)
Reference Rs137852247(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.138643011G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000197147.1,