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rs137852364

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3.5 Carrier of a Hemophilia A mutation
Make rs137852364(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154966526
GeneF8
is asnp
is mentioned by
dbSNPrs137852364
dbSNP (classic)rs137852364
ClinGenrs137852364
ebirs137852364
HLIrs137852364
Exacrs137852364
Gnomadrs137852364
Varsomers137852364
LitVarrs137852364
Maprs137852364
PheGenIrs137852364
Biobankrs137852364
1000 genomesrs137852364
hgdprs137852364
ensemblrs137852364
geneviewrs137852364
scholarrs137852364
googlers137852364
pharmgkbrs137852364
gwascentralrs137852364
openSNPrs137852364
23andMers137852364
SNPshotrs137852364
SNPdbers137852364
MSV3drs137852364
GWAS Ctlgrs137852364
Max Magnitude3.5
OMIM306700
Desc
Variant0041
Relatedalso
ClinVar
Risk rs137852364(T;T)
Alt rs137852364(T;T)
Reference Rs137852364(C;C)
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.154194801G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000010838.3,