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rs137852378

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;T) 3.5 Carrier of a Hemophilia A mutation
Make rs137852378(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position155022464
GeneF8
is asnp
is mentioned by
dbSNPrs137852378
dbSNP (classic)rs137852378
ClinGenrs137852378
ebirs137852378
HLIrs137852378
Exacrs137852378
Gnomadrs137852378
Varsomers137852378
LitVarrs137852378
Maprs137852378
PheGenIrs137852378
Biobankrs137852378
1000 genomesrs137852378
hgdprs137852378
ensemblrs137852378
geneviewrs137852378
scholarrs137852378
googlers137852378
pharmgkbrs137852378
gwascentralrs137852378
openSNPrs137852378
23andMers137852378
SNPshotrs137852378
SNPdbers137852378
MSV3drs137852378
GWAS Ctlgrs137852378
Max Magnitude3.5
OMIM306700
Desc
Variant0071
Relatedalso
ClinVar
Risk rs137852378(T;T)
Alt rs137852378(T;T)
Reference Rs137852378(A;A)
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.154250739T>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000010867.3,