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rs137929307

From SNPedia

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


Make rs137929307(A;A)
ReferenceGRCh38 38.1/142
Chromosome19
Position11116928
GeneLDLR
is asnp
is mentioned by
dbSNPrs137929307
ebirs137929307
HLIrs137929307
Exacrs137929307
Varsomers137929307
Maprs137929307
PheGenIrs137929307
hapmaprs137929307
1000 genomesrs137929307
hgdprs137929307
ensemblrs137929307
gopubmedrs137929307
geneviewrs137929307
scholarrs137929307
googlers137929307
pharmgkbrs137929307
gwascentralrs137929307
openSNPrs137929307
23andMers137929307
23andMe allrs137929307
SNP Nexus

SNPshotrs137929307
SNPdbers137929307
MSV3drs137929307
GWAS Ctlgrs137929307
Max Magnitude4

aka .1775G>A, p.Gly592Glu or G592E

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

ClinVar
Risk rs137929307(A;A)
Alt rs137929307(A;A)
Reference rs137929307(G;G)
Significance Other
Disease Hypercholesterolaemia not provided Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Hypercholesterolaemia not provided Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11227604G>A
CLNSRC LDLR @ LOVD
CLNACC RCV000148576.1, RCV000162001.1, RCV000172964.4,