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rs139617694

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;G) 4 Dominant mutation associated with Familial Hypercholesterolemia
(G;G) 0 common in clinvar


Make rs139617694(A;A)
ReferenceGRCh38.p2 38.2/144
Chromosome19
Position11113534
GeneLDLR, MIR6886
is asnp
is mentioned by
dbSNPrs139617694
ebirs139617694
HLIrs139617694
Exacrs139617694
Varsomers139617694
Maprs139617694
PheGenIrs139617694
hapmaprs139617694
1000 genomesrs139617694
hgdprs139617694
ensemblrs139617694
gopubmedrs139617694
geneviewrs139617694
scholarrs139617694
googlers139617694
pharmgkbrs139617694
gwascentralrs139617694
openSNPrs139617694
23andMers139617694
23andMe allrs139617694
SNP Nexus

SNPshotrs139617694
SNPdbers139617694
MSV3drs139617694
GWAS Ctlgrs139617694
Max Magnitude4

aka c.1359-1G>A

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

ClinVar
Risk rs139617694(A;A)
Alt rs139617694(A;A)
Reference rs139617694(G;G)
Significance Other
Disease Hypercholesterolaemia Familial hypercholesterolemia
Variation info
Gene LDLR MIR6886
CLNDBN Hypercholesterolaemia Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11224210G>A; NC_000019.9:g.11224210G>C
CLNSRC LDLR @ LOVD
CLNACC RCV000149884.1, RCV000172962.4, RCV000238326.1,