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rs137852408

From SNPedia

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


Make rs137852408(A;A)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154966671
GeneF8
is asnp
is mentioned by
dbSNPrs137852408
dbSNP (classic)rs137852408
ClinGenrs137852408
ebirs137852408
HLIrs137852408
Exacrs137852408
Gnomadrs137852408
Varsomers137852408
LitVarrs137852408
Maprs137852408
PheGenIrs137852408
Biobankrs137852408
1000 genomesrs137852408
hgdprs137852408
ensemblrs137852408
geneviewrs137852408
scholarrs137852408
googlers137852408
pharmgkbrs137852408
gwascentralrs137852408
openSNPrs137852408
23andMers137852408
SNPshotrs137852408
SNPdbers137852408
MSV3drs137852408
GWAS Ctlgrs137852408
Max Magnitude3.5
OMIM306700
Desc
Variant0117
Relatedalso
ClinVar
Risk rs137852408(A;A)
Alt rs137852408(A;A)
Reference Rs137852408(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.154194946A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000010913.5,