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rs137852465

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852465(G;T)
Make rs137852465(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154863124
GeneF8
is asnp
is mentioned by
dbSNPrs137852465
dbSNP (classic)rs137852465
ClinGenrs137852465
ebirs137852465
HLIrs137852465
Exacrs137852465
Gnomadrs137852465
Varsomers137852465
LitVarrs137852465
Maprs137852465
PheGenIrs137852465
Biobankrs137852465
1000 genomesrs137852465
hgdprs137852465
ensemblrs137852465
geneviewrs137852465
scholarrs137852465
googlers137852465
pharmgkbrs137852465
gwascentralrs137852465
openSNPrs137852465
23andMers137852465
SNPshotrs137852465
SNPdbers137852465
MSV3drs137852465
GWAS Ctlgrs137852465
Merged fromRs28937302
Max Magnitude0
OMIM306700
Desc
Variant0235
Relatedalso
OMIM306700
Desc
Variant0236
Relatedalso
ClinVar
Risk rs137852465(A;A) rs137852465(T;T)
Alt rs137852465(A;A) rs137852465(T;T)
Reference Rs137852465(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.154091399C>A; NC_000023.10:g.154091399C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000011027.4, RCV000011032.5,