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rs137852386

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;T) 3.5 Carrier of a Hemophilia A mutation
(T;T) 0 common in clinvar


Make rs137852386(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154997011
GeneF8
is asnp
is mentioned by
dbSNPrs137852386
dbSNP (classic)rs137852386
ClinGenrs137852386
ebirs137852386
HLIrs137852386
Exacrs137852386
Gnomadrs137852386
Varsomers137852386
LitVarrs137852386
Maprs137852386
PheGenIrs137852386
Biobankrs137852386
1000 genomesrs137852386
hgdprs137852386
ensemblrs137852386
geneviewrs137852386
scholarrs137852386
googlers137852386
pharmgkbrs137852386
gwascentralrs137852386
openSNPrs137852386
23andMers137852386
SNPshotrs137852386
SNPdbers137852386
MSV3drs137852386
GWAS Ctlgrs137852386
Merged fromRs28935208
Max Magnitude3.5
OMIM306700
Desc
Variant0086
Relatedalso
ClinVar
Risk rs137852386(G;G)
Alt rs137852386(G;G)
Reference Rs137852386(T;T)
Significance Pathogenic
Disease Hereditary factor VIII deficiency disease
Variation info
Gene F8
CLNDBN Hereditary factor VIII deficiency disease
Reversed 1
HGVS NC_000023.10:g.154225286A>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000010882.3,