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

rs886039829

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;A) 3.1 Hypercholesterolemia, Type B; heterozygote
(A;A) 0 common in clinvar


Make rs886039829(-;-)
ReferenceGRCh38.p7 38.3/149
Chromosome2
Position21002264
GeneAPOB
is asnp
is mentioned by
dbSNPrs886039829
dbSNP (classic)rs886039829
ClinGenrs886039829
ebirs886039829
HLIrs886039829
Exacrs886039829
Gnomadrs886039829
Varsomers886039829
LitVarrs886039829
Maprs886039829
PheGenIrs886039829
Biobankrs886039829
1000 genomesrs886039829
hgdprs886039829
ensemblrs886039829
geneviewrs886039829
scholarrs886039829
googlers886039829
pharmgkbrs886039829
gwascentralrs886039829
openSNPrs886039829
23andMers886039829
23andMe allrs886039829
SNPshotrs886039829
SNPdbers886039829
MSV3drs886039829
GWAS Ctlgrs886039829
Max Magnitude3.1

aka c.13158delA

ClinVar
Risk rs886039829(-;-)
Alt rs886039829(-;-)
Reference Rs886039829(A;A)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene APOB
CLNDBN Familial hypercholesterolemia
Reversed 1
HGVS NC_000002.11:g.21225136delT
CLNSRC Instituto Nacional de Saúde Doutor Ricardo Jorge
CLNACC RCV000256308.1,