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rs200238879

From SNPedia

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


Make rs200238879(C;C)
ReferenceGRCh38 38.1/142
Chromosome19
Position11105602
GeneLDLR
is asnp
is mentioned by
dbSNPrs200238879
ebirs200238879
HLIrs200238879
Exacrs200238879
Varsomers200238879
Maprs200238879
PheGenIrs200238879
hapmaprs200238879
1000 genomesrs200238879
hgdprs200238879
ensemblrs200238879
gopubmedrs200238879
geneviewrs200238879
scholarrs200238879
googlers200238879
pharmgkbrs200238879
gwascentralrs200238879
openSNPrs200238879
23andMers200238879
23andMe allrs200238879
SNP Nexus

SNPshotrs200238879
SNPdbers200238879
MSV3drs200238879
GWAS Ctlgrs200238879
Max Magnitude4

aka c.694+2T>C

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

ClinVar
Risk rs200238879(C;C)
Alt rs200238879(C;C)
Reference rs200238879(T;T)
Significance Pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11216278T>C
CLNSRC LDLR @ LOVD OMIM Allelic Variant
CLNACC RCV000003936.5,