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rs28937285

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 5.5 Hemophilia A (severity varies)
(A;G) 3.5 Carrier of a Hemophilia A mutation
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
ChromosomeX
Position154931575
GeneF8
is asnp
is mentioned by
dbSNPrs28937285
dbSNP (classic)rs28937285
ClinGenrs28937285
ebirs28937285
HLIrs28937285
Exacrs28937285
Gnomadrs28937285
Varsomers28937285
LitVarrs28937285
Maprs28937285
PheGenIrs28937285
Biobankrs28937285
1000 genomesrs28937285
hgdprs28937285
ensemblrs28937285
geneviewrs28937285
scholarrs28937285
googlers28937285
pharmgkbrs28937285
gwascentralrs28937285
openSNPrs28937285
23andMers28937285
SNPshotrs28937285
SNPdbers28937285
MSV3drs28937285
GWAS Ctlgrs28937285
Max Magnitude5.5
OMIM306700
DescHemophilia A
Variant0164
Relatedalso


ClinVar
Risk Rs28937285(A;A)
Alt Rs28937285(A;A)
Reference Rs28937285(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.154159850C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000010960.4,