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rs137852367

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3.5 Carrier of a Hemophilia A mutation
Make rs137852367(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154992971
GeneF8
is asnp
is mentioned by
dbSNPrs137852367
dbSNP (classic)rs137852367
ClinGenrs137852367
ebirs137852367
HLIrs137852367
Exacrs137852367
Gnomadrs137852367
Varsomers137852367
LitVarrs137852367
Maprs137852367
PheGenIrs137852367
Biobankrs137852367
1000 genomesrs137852367
hgdprs137852367
ensemblrs137852367
geneviewrs137852367
scholarrs137852367
googlers137852367
pharmgkbrs137852367
gwascentralrs137852367
openSNPrs137852367
23andMers137852367
SNPshotrs137852367
SNPdbers137852367
MSV3drs137852367
GWAS Ctlgrs137852367
Max Magnitude3.5
OMIM306700
Desc
Variant0045
Relatedalso
ClinVar
Risk rs137852367(T;T)
Alt rs137852367(T;T)
Reference Rs137852367(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.154221246G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000010842.2,