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rs267606655

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CC;CC) 0 common in clinvar
(CC;GA) 5 Lowered risk (0.6x) of coronary artery disease
Make rs267606655(GA;GA)
ReferenceGRCh38 38.1/141
Chromosome1
Position62597616
GeneANGPTL3, DOCK7
is asnp
is mentioned by
dbSNPrs267606655
ClinGenrs267606655
ebirs267606655
HLIrs267606655
Exacrs267606655
Varsomers267606655
Maprs267606655
PheGenIrs267606655
hapmaprs267606655
1000 genomesrs267606655
hgdprs267606655
ensemblrs267606655
gopubmedrs267606655
geneviewrs267606655
scholarrs267606655
googlers267606655
pharmgkbrs267606655
gwascentralrs267606655
openSNPrs267606655
23andMers267606655
23andMe allrs267606655
SNP Nexus

SNPshotrs267606655
SNPdbers267606655
MSV3drs267606655
GWAS Ctlgrs267606655
Max Magnitude5

rs267606655, also known as c.50_51delCCinsGA and p.Ser17Ter, represents a rare loss of function variant in the ANGPTL3 gene on chromosome 1.

As a loss of function variant, the minor allele leads to lower amounts of ANGPTL3 protein, lowered triglycerides and LDL cholesterol, and according to several studies, a lowered risk (by about 40%) of developing coronary artery disease. These studies are discussed on the ANGPTL3 page.

ClinVar
Risk rs267606655(GA;GA)
Alt rs267606655(GA;GA)
Reference Rs267606655(CC;CC)
Significance Pathogenic
Disease Hypobetalipoproteinemia
Variation info
Gene DOCK7 ANGPTL3
CLNDBN Hypobetalipoproteinemia, familial, 2
Reversed 0
HGVS NC_000001.10:g.63063287_63063288delCCinsGA
CLNSRC OMIM Allelic Variant
CLNACC RCV000005684.3,