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rs137852368

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3.5 Carrier of a Hemophilia A mutation
Make rs137852368(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154966634
GeneF8
is asnp
is mentioned by
dbSNPrs137852368
dbSNP (classic)rs137852368
ClinGenrs137852368
ebirs137852368
HLIrs137852368
Exacrs137852368
Gnomadrs137852368
Varsomers137852368
LitVarrs137852368
Maprs137852368
PheGenIrs137852368
Biobankrs137852368
1000 genomesrs137852368
hgdprs137852368
ensemblrs137852368
geneviewrs137852368
scholarrs137852368
googlers137852368
pharmgkbrs137852368
gwascentralrs137852368
openSNPrs137852368
23andMers137852368
SNPshotrs137852368
SNPdbers137852368
MSV3drs137852368
GWAS Ctlgrs137852368
Max Magnitude3.5
OMIM306700
Desc
Variant0055
Relatedalso
ClinVar
Risk rs137852368(T;T)
Alt rs137852368(T;T)
Reference Rs137852368(C;C)
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.154194909G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010852.5,