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rs28933682

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 3.5 Carrier of a Hemophilia A mutation
(G;G) 5.5 Hemophilia A (severity varies)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154904082
GeneF8
is asnp
is mentioned by
dbSNPrs28933682
dbSNP (classic)rs28933682
ClinGenrs28933682
ebirs28933682
HLIrs28933682
Exacrs28933682
Gnomadrs28933682
Varsomers28933682
LitVarrs28933682
Maprs28933682
PheGenIrs28933682
Biobankrs28933682
1000 genomesrs28933682
hgdprs28933682
ensemblrs28933682
geneviewrs28933682
scholarrs28933682
googlers28933682
pharmgkbrs28933682
gwascentralrs28933682
openSNPrs28933682
23andMers28933682
SNPshotrs28933682
SNPdbers28933682
MSV3drs28933682
GWAS Ctlgrs28933682
Max Magnitude5.5
OMIM306700
DescHemophilia A
Variant0211
Relatedalso



ClinVar
Risk Rs28933682(G;G)
Alt Rs28933682(G;G)
Reference Rs28933682(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.154132357T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000011007.4,