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rs137852416

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3.5 Carrier of a Hemophilia A mutation
Make rs137852416(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154957073
GeneF8
is asnp
is mentioned by
dbSNPrs137852416
dbSNP (classic)rs137852416
ClinGenrs137852416
ebirs137852416
HLIrs137852416
Exacrs137852416
Gnomadrs137852416
Varsomers137852416
LitVarrs137852416
Maprs137852416
PheGenIrs137852416
Biobankrs137852416
1000 genomesrs137852416
hgdprs137852416
ensemblrs137852416
geneviewrs137852416
scholarrs137852416
googlers137852416
pharmgkbrs137852416
gwascentralrs137852416
openSNPrs137852416
23andMers137852416
SNPshotrs137852416
SNPdbers137852416
MSV3drs137852416
GWAS Ctlgrs137852416
Merged fromRs28937277
Max Magnitude3.5
OMIM306700
Desc
Variant0139
Relatedalso
ClinVar
Risk rs137852416(T;T)
Alt rs137852416(T;T)
Reference Rs137852416(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.154185348G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000010935.2,