Have questions? Visit https://www.reddit.com/r/SNPedia

rs137852403

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;G) 3.5 Carrier of a Hemophilia A mutation
(G;G) 0 common in clinvar
(G;T) 3.5 Carrier of a Hemophilia A mutation


Make rs137852403(A;A)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154969438
GeneF8
is asnp
is mentioned by
dbSNPrs137852403
dbSNP (classic)rs137852403
ClinGenrs137852403
ebirs137852403
HLIrs137852403
Exacrs137852403
Gnomadrs137852403
Varsomers137852403
LitVarrs137852403
Maprs137852403
PheGenIrs137852403
Biobankrs137852403
1000 genomesrs137852403
hgdprs137852403
ensemblrs137852403
geneviewrs137852403
scholarrs137852403
googlers137852403
pharmgkbrs137852403
gwascentralrs137852403
openSNPrs137852403
23andMers137852403
SNPshotrs137852403
SNPdbers137852403
MSV3drs137852403
GWAS Ctlgrs137852403
Merged fromRs28935216
Max Magnitude3.5
OMIM306700
Desc
Variant0109
Relatedalso
OMIM306700
Desc
Variant0110
Relatedalso
ClinVar
Risk rs137852403(A;A) rs137852403(T;T)
Alt rs137852403(A;A) rs137852403(T;T)
Reference Rs137852403(G;G)
Significance Pathogenic
Disease Hereditary factor VIII deficiency disease not provided
Variation info
Gene F8
CLNDBN Hereditary factor VIII deficiency disease not provided
Reversed 1
HGVS NC_000023.10:g.154197713C>A; NC_000023.10:g.154197713C>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000010906.2, RCV000010905.7, RCV000255290.1,