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

rs370777955

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;G) 4 Dominant mutation associated with Familial Hypercholesterolemia
Make rs370777955(G;G)
ReferenceGRCh38 38.1/142
Chromosome19
Position11113643
GeneLDLR, MIR6886
is asnp
is mentioned by
dbSNPrs370777955
ebirs370777955
HLIrs370777955
Exacrs370777955
Varsomers370777955
Maprs370777955
PheGenIrs370777955
hapmaprs370777955
1000 genomesrs370777955
hgdprs370777955
ensemblrs370777955
gopubmedrs370777955
geneviewrs370777955
scholarrs370777955
googlers370777955
pharmgkbrs370777955
gwascentralrs370777955
openSNPrs370777955
23andMers370777955
23andMe allrs370777955
SNP Nexus

SNPshotrs370777955
SNPdbers370777955
MSV3drs370777955
GWAS Ctlgrs370777955
Max Magnitude4

aka c.1467C>G or p.Tyr489Ter

reported in ClinVar as pathogenic for familial hypercholesterolemia and therefore increased risk for coronary artery disease

ClinVar
Risk rs370777955(G;G)
Alt rs370777955(G;G)
Reference rs370777955(C;C)
Significance Pathogenic
Disease Hypercholesterolaemia Familial hypercholesterolemia
Variation info
Gene LDLR MIR6886
CLNDBN Hypercholesterolaemia Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11224319C>G
CLNSRC LDLR @ LOVD
CLNACC RCV000148575.1, RCV000238307.1,