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rs137852355

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852355(C;T)
Make rs137852355(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154861759
GeneF8
is asnp
is mentioned by
dbSNPrs137852355
dbSNP (classic)rs137852355
ClinGenrs137852355
ebirs137852355
HLIrs137852355
Exacrs137852355
Gnomadrs137852355
Varsomers137852355
LitVarrs137852355
Maprs137852355
PheGenIrs137852355
Biobankrs137852355
1000 genomesrs137852355
hgdprs137852355
ensemblrs137852355
geneviewrs137852355
scholarrs137852355
googlers137852355
pharmgkbrs137852355
gwascentralrs137852355
openSNPrs137852355
23andMers137852355
SNPshotrs137852355
SNPdbers137852355
MSV3drs137852355
GWAS Ctlgrs137852355
Merged fromRs28937306
Max Magnitude0
OMIM306700
Desc
Variant0002
Relatedalso
OMIM306700
Desc
Variant0242
Relatedalso
ClinVar
Risk rs137852355(G;G) rs137852355(T;T)
Alt rs137852355(G;G) rs137852355(T;T)
Reference Rs137852355(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.154090034G>A; NC_000023.10:g.154090034G>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000010798.2, RCV000011038.3,