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rs28933676

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 3.5 Carrier of a Hemophilia A mutation
(C;C) 5.5 Hemophilia A (severity varies)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154904864
GeneF8
is asnp
is mentioned by
dbSNPrs28933676
dbSNP (classic)rs28933676
ClinGenrs28933676
ebirs28933676
HLIrs28933676
Exacrs28933676
Gnomadrs28933676
Varsomers28933676
LitVarrs28933676
Maprs28933676
PheGenIrs28933676
Biobankrs28933676
1000 genomesrs28933676
hgdprs28933676
ensemblrs28933676
geneviewrs28933676
scholarrs28933676
googlers28933676
pharmgkbrs28933676
gwascentralrs28933676
openSNPrs28933676
23andMers28933676
SNPshotrs28933676
SNPdbers28933676
MSV3drs28933676
GWAS Ctlgrs28933676
Max Magnitude5.5
OMIM306700
DescHemophilia A
Variant0199
Relatedalso



ClinVar
Risk Rs28933676(C;C)
Alt Rs28933676(C;C)
Reference Rs28933676(A;A)
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.154133139T>G
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000010995.6,