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rs137852228

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852228(A;A)
Make rs137852228(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position139537145
GeneF9
is asnp
is mentioned by
dbSNPrs137852228
dbSNP (classic)rs137852228
ClinGenrs137852228
ebirs137852228
HLIrs137852228
Exacrs137852228
Gnomadrs137852228
Varsomers137852228
LitVarrs137852228
Maprs137852228
PheGenIrs137852228
Biobankrs137852228
1000 genomesrs137852228
hgdprs137852228
ensemblrs137852228
geneviewrs137852228
scholarrs137852228
googlers137852228
pharmgkbrs137852228
gwascentralrs137852228
openSNPrs137852228
23andMers137852228
SNPshotrs137852228
SNPdbers137852228
MSV3drs137852228
GWAS Ctlgrs137852228
Max Magnitude0
OMIM300746
Desc
Variant0016
Relatedalso
ClinVar
Risk rs137852228(A;A)
Alt rs137852228(A;A)
Reference Rs137852228(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.138619304G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000011319.2,