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rs28933670

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 5.5 Hemophilia A (severity varies)
(G;T) 3.5 Carrier of a Hemophilia A mutation
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
ChromosomeX
Position154966483
GeneF8
is asnp
is mentioned by
dbSNPrs28933670
dbSNP (classic)rs28933670
ClinGenrs28933670
ebirs28933670
HLIrs28933670
Exacrs28933670
Gnomadrs28933670
Varsomers28933670
LitVarrs28933670
Maprs28933670
PheGenIrs28933670
Biobankrs28933670
1000 genomesrs28933670
hgdprs28933670
ensemblrs28933670
geneviewrs28933670
scholarrs28933670
googlers28933670
pharmgkbrs28933670
gwascentralrs28933670
openSNPrs28933670
23andMers28933670
SNPshotrs28933670
SNPdbers28933670
MSV3drs28933670
GWAS Ctlgrs28933670
Max Magnitude5.5
OMIM306700
DescHemophilia A
Variant0125
Relatedalso



ClinVar
Risk Rs28933670(G;G)
Alt Rs28933670(G;G)
Reference Rs28933670(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.154194758A>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000010921.6,