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rs137852475

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137852475(G;G)
Make rs137852475(G;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154992945
GeneF8
is asnp
is mentioned by
dbSNPrs137852475
ClinGenrs137852475
ebirs137852475
HLIrs137852475
Exacrs137852475
Varsomers137852475
Maprs137852475
PheGenIrs137852475
hapmaprs137852475
1000 genomesrs137852475
hgdprs137852475
ensemblrs137852475
gopubmedrs137852475
geneviewrs137852475
scholarrs137852475
googlers137852475
pharmgkbrs137852475
gwascentralrs137852475
openSNPrs137852475
23andMers137852475
23andMe allrs137852475
SNP Nexus

SNPshotrs137852475
SNPdbers137852475
MSV3drs137852475
GWAS Ctlgrs137852475
Max Magnitude0
OMIM306700
Desc
Variant0268
Relatedalso
ClinVar
Risk rs137852475(G;G)
Alt rs137852475(G;G)
Reference Rs137852475(T;T)
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.154221220A>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000011064.3,