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rs137852435

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852435(C;T)
Make rs137852435(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154931641
GeneF8
is asnp
is mentioned by
dbSNPrs137852435
dbSNP (classic)rs137852435
ClinGenrs137852435
ebirs137852435
HLIrs137852435
Exacrs137852435
Gnomadrs137852435
Varsomers137852435
LitVarrs137852435
Maprs137852435
PheGenIrs137852435
Biobankrs137852435
1000 genomesrs137852435
hgdprs137852435
ensemblrs137852435
geneviewrs137852435
scholarrs137852435
googlers137852435
pharmgkbrs137852435
gwascentralrs137852435
openSNPrs137852435
23andMers137852435
SNPshotrs137852435
SNPdbers137852435
MSV3drs137852435
GWAS Ctlgrs137852435
Max Magnitude0
OMIM306700
Desc
Variant0162
Relatedalso
ClinVar
Risk rs137852435(T;T)
Alt rs137852435(T;T)
Reference Rs137852435(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.154159916G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000010958.2,