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rs137852375

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137852375(C;C)
Make rs137852375(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154906421
GeneF8
is asnp
is mentioned by
dbSNPrs137852375
ClinGenrs137852375
ebirs137852375
HLIrs137852375
Exacrs137852375
Varsomers137852375
Maprs137852375
PheGenIrs137852375
hapmaprs137852375
1000 genomesrs137852375
hgdprs137852375
ensemblrs137852375
gopubmedrs137852375
geneviewrs137852375
scholarrs137852375
googlers137852375
pharmgkbrs137852375
gwascentralrs137852375
openSNPrs137852375
23andMers137852375
23andMe allrs137852375
SNP Nexus

SNPshotrs137852375
SNPdbers137852375
MSV3drs137852375
GWAS Ctlgrs137852375
Max Magnitude0
OMIM306700
Desc
Variant0065
Relatedalso
ClinVar
Risk rs137852375(C;C)
Alt rs137852375(C;C)
Reference Rs137852375(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.154134696A>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000010861.5,