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rs111033616

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 5.5 Hemophilia A (severity varies)
(A;T) 3.5 Carrier of a Hemophilia A mutation
(T;T) 0 common in clinvar
ReferenceGRCh38 38.1/141
ChromosomeX
Position154966065
GeneF8
is asnp
is mentioned by
dbSNPrs111033616
dbSNP (classic)rs111033616
ClinGenrs111033616
ebirs111033616
HLIrs111033616
Exacrs111033616
Gnomadrs111033616
Varsomers111033616
LitVarrs111033616
Maprs111033616
PheGenIrs111033616
Biobankrs111033616
1000 genomesrs111033616
hgdprs111033616
ensemblrs111033616
geneviewrs111033616
scholarrs111033616
googlers111033616
pharmgkbrs111033616
gwascentralrs111033616
openSNPrs111033616
23andMers111033616
SNPshotrs111033616
SNPdbers111033616
MSV3drs111033616
GWAS Ctlgrs111033616
Merged fromRs28937273
Max Magnitude5.5
OMIM306700
Desc
Variant0130
Relatedalso
ClinVar
Risk Rs111033616(A;A)
Alt Rs111033616(A;A)
Reference Rs111033616(T;T)
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.154194340A>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000010926.5,