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rs28937272

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
Position154966082
GeneF8
is asnp
is mentioned by
dbSNPrs28937272
ebirs28937272
HLIrs28937272
Exacrs28937272
Varsomers28937272
Maprs28937272
PheGenIrs28937272
hapmaprs28937272
1000 genomesrs28937272
hgdprs28937272
ensemblrs28937272
gopubmedrs28937272
geneviewrs28937272
scholarrs28937272
googlers28937272
pharmgkbrs28937272
gwascentralrs28937272
openSNPrs28937272
23andMers28937272
23andMe allrs28937272
SNP Nexus

SNPshotrs28937272
SNPdbers28937272
MSV3drs28937272
GWAS Ctlgrs28937272
Max Magnitude3
OMIM306700
DescHemophilia A
Variant0129
Relatedalso
Neighborrs28937273
Distance17
Neighborrs28933672
Distance38


ClinVar
Risk rs28937272(G;G)
Alt rs28937272(G;G)
Reference rs28937272(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.154194357T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000010925.2,