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rs137852377

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137852377(G;G)
Make rs137852377(G;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position155022476
GeneF8
is asnp
is mentioned by
dbSNPrs137852377
dbSNP (classic)rs137852377
ClinGenrs137852377
ebirs137852377
HLIrs137852377
Exacrs137852377
Gnomadrs137852377
Varsomers137852377
LitVarrs137852377
Maprs137852377
PheGenIrs137852377
Biobankrs137852377
1000 genomesrs137852377
hgdprs137852377
ensemblrs137852377
geneviewrs137852377
scholarrs137852377
googlers137852377
pharmgkbrs137852377
gwascentralrs137852377
openSNPrs137852377
23andMers137852377
SNPshotrs137852377
SNPdbers137852377
MSV3drs137852377
GWAS Ctlgrs137852377
Max Magnitude0
OMIM306700
Desc
Variant0070
Relatedalso
ClinVar
Risk rs137852377(G;G)
Alt rs137852377(G;G)
Reference Rs137852377(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.154250751A>C
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000010866.5,