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rs28933672

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
(G;T) 2.5
(T;T) 3
ReferenceGRCh38 38.1/141
ChromosomeX
Position154966120
GeneF8
is asnp
is mentioned by
dbSNPrs28933672
ebirs28933672
HLIrs28933672
Exacrs28933672
Varsomers28933672
Maprs28933672
PheGenIrs28933672
hapmaprs28933672
1000 genomesrs28933672
hgdprs28933672
ensemblrs28933672
gopubmedrs28933672
geneviewrs28933672
scholarrs28933672
googlers28933672
pharmgkbrs28933672
gwascentralrs28933672
openSNPrs28933672
23andMers28933672
23andMe allrs28933672
SNP Nexus

SNPshotrs28933672
SNPdbers28933672
MSV3drs28933672
GWAS Ctlgrs28933672
Max Magnitude3
OMIM306700
DescHemophilia A
Variant0127
Relatedalso
Neighborrs28937272
Distance38
Neighborrs28933671
Distance351


ClinVar
Risk rs28933672(T;T)
Alt rs28933672(T;T)
Reference rs28933672(G;G)
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.154194395C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000010923.5,