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rs139361635

From SNPedia

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


Make rs139361635(A;A)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position11110735
GeneLDLR
is asnp
is mentioned by
dbSNPrs139361635
ebirs139361635
HLIrs139361635
Exacrs139361635
Varsomers139361635
Maprs139361635
PheGenIrs139361635
hapmaprs139361635
1000 genomesrs139361635
hgdprs139361635
ensemblrs139361635
gopubmedrs139361635
geneviewrs139361635
scholarrs139361635
googlers139361635
pharmgkbrs139361635
gwascentralrs139361635
openSNPrs139361635
23andMers139361635
23andMe allrs139361635
SNP Nexus

SNPshotrs139361635
SNPdbers139361635
MSV3drs139361635
GWAS Ctlgrs139361635
Max Magnitude4
aka c.1024G>A, p.Asp342Asn or D342N

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

ClinVar
Risk rs139361635(A;A)
Alt rs139361635(A;A)
Reference rs139361635(G;G)
Significance Pathogenic
Disease Hypercholesterolaemia not provided not specified Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Hypercholesterolaemia not provided not specified Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11221411G>A; NC_000019.9:g.11221411G>T
CLNSRC LDLR @ LOVD
CLNACC RCV000148580.1, RCV000162022.2, RCV000218676.1, RCV000238033.1, RCV000238495.1,