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rs28933679

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;G) 2.5
(G;G) 3
ReferenceGRCh38 38.1/141
ChromosomeX
Position154904511
GeneF8
is asnp
is mentioned by
dbSNPrs28933679
ebirs28933679
HLIrs28933679
Exacrs28933679
Varsomers28933679
Maprs28933679
PheGenIrs28933679
hapmaprs28933679
1000 genomesrs28933679
hgdprs28933679
ensemblrs28933679
gopubmedrs28933679
geneviewrs28933679
scholarrs28933679
googlers28933679
pharmgkbrs28933679
gwascentralrs28933679
openSNPrs28933679
23andMers28933679
23andMe allrs28933679
SNP Nexus

SNPshotrs28933679
SNPdbers28933679
MSV3drs28933679
GWAS Ctlgrs28933679
Max Magnitude3
OMIM306700
DescHemophilia A
Variant0205
Relatedalso
Neighborrs28933680
Distance18
Neighborrs28933678
Distance7


ClinVar
Risk rs28933679(G;G)
Alt rs28933679(G;G)
Reference rs28933679(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.154132786T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000011001.2,