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rs28933671

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
Position154966471
GeneF8
is asnp
is mentioned by
dbSNPrs28933671
dbSNP (classic)rs28933671
ClinGenrs28933671
ebirs28933671
HLIrs28933671
Exacrs28933671
Gnomadrs28933671
Varsomers28933671
LitVarrs28933671
Maprs28933671
PheGenIrs28933671
Biobankrs28933671
1000 genomesrs28933671
hgdprs28933671
ensemblrs28933671
geneviewrs28933671
scholarrs28933671
googlers28933671
pharmgkbrs28933671
gwascentralrs28933671
openSNPrs28933671
23andMers28933671
SNPshotrs28933671
SNPdbers28933671
MSV3drs28933671
GWAS Ctlgrs28933671
Max Magnitude5.5
OMIM306700
DescHemophilia A
Variant0126
Relatedalso



ClinVar
Risk Rs28933671(G;G)
Alt Rs28933671(G;G)
Reference Rs28933671(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.154194746T>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000010922.2,