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rs793888522

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs793888522(A;G)
Make rs793888522(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome4
Position67571102
GeneSTAP1
is asnp
is mentioned by
dbSNPrs793888522
dbSNP (classic)rs793888522
ClinGenrs793888522
ebirs793888522
HLIrs793888522
Exacrs793888522
Gnomadrs793888522
Varsomers793888522
LitVarrs793888522
Maprs793888522
PheGenIrs793888522
Biobankrs793888522
1000 genomesrs793888522
hgdprs793888522
ensemblrs793888522
geneviewrs793888522
scholarrs793888522
googlers793888522
pharmgkbrs793888522
gwascentralrs793888522
openSNPrs793888522
23andMers793888522
SNPshotrs793888522
SNPdbers793888522
MSV3drs793888522
GWAS Ctlgrs793888522
Max Magnitude0
ClinVar
Risk rs793888522(G;G)
Alt rs793888522(G;G)
Reference Rs793888522(A;A)
Significance Probable-Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene STAP1
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000004.11:g.68436820A>G
CLNSRC
CLNACC RCV000172976.1,