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rs137852380

From SNPedia

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


Make rs137852380(A;A)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154997095
GeneF8
is asnp
is mentioned by
dbSNPrs137852380
dbSNP (classic)rs137852380
ClinGenrs137852380
ebirs137852380
HLIrs137852380
Exacrs137852380
Gnomadrs137852380
Varsomers137852380
LitVarrs137852380
Maprs137852380
PheGenIrs137852380
Biobankrs137852380
1000 genomesrs137852380
hgdprs137852380
ensemblrs137852380
geneviewrs137852380
scholarrs137852380
googlers137852380
pharmgkbrs137852380
gwascentralrs137852380
openSNPrs137852380
23andMers137852380
SNPshotrs137852380
SNPdbers137852380
MSV3drs137852380
GWAS Ctlgrs137852380
Max Magnitude3.5
OMIM306700
Desc
Variant0080
Relatedalso
ClinVar
Risk rs137852380(A;A)
Alt rs137852380(A;A)
Reference Rs137852380(G;G)
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.154225370C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000010876.2,