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rs137852382

From SNPedia

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


Make rs137852382(A;A)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154997065
GeneF8
is asnp
is mentioned by
dbSNPrs137852382
dbSNP (classic)rs137852382
ClinGenrs137852382
ebirs137852382
HLIrs137852382
Exacrs137852382
Gnomadrs137852382
Varsomers137852382
LitVarrs137852382
Maprs137852382
PheGenIrs137852382
Biobankrs137852382
1000 genomesrs137852382
hgdprs137852382
ensemblrs137852382
geneviewrs137852382
scholarrs137852382
googlers137852382
pharmgkbrs137852382
gwascentralrs137852382
openSNPrs137852382
23andMers137852382
SNPshotrs137852382
SNPdbers137852382
MSV3drs137852382
GWAS Ctlgrs137852382
Merged fromRs28935205
Max Magnitude3.5
OMIM306700
Desc
Variant0082
Relatedalso
ClinVar
Risk rs137852382(A;A)
Alt rs137852382(A;A)
Reference Rs137852382(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.154225340A>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000010878.3,