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

rs587776852

From SNPedia

Orientationplus
Stabilizedminus
Geno Mag Summary
(-;C) 3 Carrier of a hypobetalipoproteinemia mutation
(C;C) 0 common in clinvar
(CA;CA) 0 common in clinvar
(G;G) 0 common in clinvar
(I;I) 0 common genotype
Make rs587776852(-;-)
Make rs587776852(-;G)
ReferenceGRCh38 38.1/142
Chromosome2
Position21005156
GeneAPOB
is asnp
is mentioned by
dbSNPrs587776852
dbSNP (classic)rs587776852
ClinGenrs587776852
ebirs587776852
HLIrs587776852
Exacrs587776852
Gnomadrs587776852
Varsomers587776852
LitVarrs587776852
Maprs587776852
PheGenIrs587776852
Biobankrs587776852
1000 genomesrs587776852
hgdprs587776852
ensemblrs587776852
geneviewrs587776852
scholarrs587776852
googlers587776852
pharmgkbrs587776852
gwascentralrs587776852
openSNPrs587776852
23andMers587776852
SNPshotrs587776852
SNPdbers587776852
MSV3drs587776852
GWAS Ctlgrs587776852
Max Magnitude3
ClinVar
Risk Rs587776852(G;G) rs587776852(-;-)
Alt Rs587776852(G;G) rs587776852(-;-)
Reference Rs587776852(C;C)
Significance Pathogenic
Disease Familial hypobetalipoproteinemia
Variation info
Gene APOB
CLNDBN Familial hypobetalipoproteinemia
Reversed 1
HGVS NC_000002.11:g.21228028delG
CLNSRC OMIM Allelic Variant
CLNACC RCV000019485.26,