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rs28933673

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 3
(A;G) 2.5
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
ChromosomeX
Position154930621
GeneF8
is asnp
is mentioned by
dbSNPrs28933673
dbSNP (classic)rs28933673
ClinGenrs28933673
ebirs28933673
HLIrs28933673
Exacrs28933673
Gnomadrs28933673
Varsomers28933673
LitVarrs28933673
Maprs28933673
PheGenIrs28933673
Biobankrs28933673
1000 genomesrs28933673
hgdprs28933673
ensemblrs28933673
geneviewrs28933673
scholarrs28933673
googlers28933673
pharmgkbrs28933673
gwascentralrs28933673
openSNPrs28933673
23andMers28933673
SNPshotrs28933673
SNPdbers28933673
MSV3drs28933673
GWAS Ctlgrs28933673
GMAF0.001209
Max Magnitude3
OMIM306700
DescHemophilia A
Variant0168
Relatedalso



ClinVar
Risk Rs28933673(A;A)
Alt Rs28933673(A;A)
Reference Rs28933673(G;G)
Significance Other
Disease Hereditary factor VIII deficiency disease
Variation info
Gene F8
CLNDBN Hereditary factor VIII deficiency disease
Reversed 1
HGVS NC_000023.10:g.154158896C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000010964.5,