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rs794728584

From SNPedia

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


Make rs794728584(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11120162
GeneLDLR
is asnp
is mentioned by
dbSNPrs794728584
ebirs794728584
HLIrs794728584
Exacrs794728584
Varsomers794728584
Maprs794728584
PheGenIrs794728584
hapmaprs794728584
1000 genomesrs794728584
hgdprs794728584
ensemblrs794728584
gopubmedrs794728584
geneviewrs794728584
scholarrs794728584
googlers794728584
pharmgkbrs794728584
gwascentralrs794728584
openSNPrs794728584
23andMers794728584
23andMe allrs794728584
SNP Nexus

SNPshotrs794728584
SNPdbers794728584
MSV3drs794728584
GWAS Ctlgrs794728584
Max Magnitude4
aka c.1916T>A, p.Val639Asp or V639D

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

ClinVar
Risk rs794728584(A;A)
Alt rs794728584(A;A)
Reference rs794728584(T;T)
Significance Pathogenic
Disease not provided Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN not provided Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11230838T>A; NC_000019.9:g.11230838T>G
CLNSRC LDLR @ LOVD
CLNACC RCV000182343.1, RCV000238444.1, RCV000237504.1,