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rs137852428

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3.5 Carrier of a Hemophilia A mutation
(T;T) 5.5 Hemophilia A (severity varies)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154953961
GeneF8
is asnp
is mentioned by
dbSNPrs137852428
dbSNP (classic)rs137852428
ClinGenrs137852428
ebirs137852428
HLIrs137852428
Exacrs137852428
Gnomadrs137852428
Varsomers137852428
LitVarrs137852428
Maprs137852428
PheGenIrs137852428
Biobankrs137852428
1000 genomesrs137852428
hgdprs137852428
ensemblrs137852428
geneviewrs137852428
scholarrs137852428
googlers137852428
pharmgkbrs137852428
gwascentralrs137852428
openSNPrs137852428
23andMers137852428
SNPshotrs137852428
SNPdbers137852428
MSV3drs137852428
GWAS Ctlgrs137852428
Max Magnitude5.5
OMIM306700
Desc
Variant0153
Relatedalso
ClinVar
Risk Rs137852428(T;T)
Alt Rs137852428(T;T)
Reference Rs137852428(C;C)
Significance Pathogenic
Disease Hereditary factor VIII deficiency disease not provided
Variation info
Gene F8
CLNDBN Hereditary factor VIII deficiency disease not provided
Reversed 1
HGVS NC_000023.10:g.154182236G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000010949.6, RCV000413577.1,