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rs137853965

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(-;-) 0
(-;C) 4 dominant mutation leading to Familial Hypercholesterolemia
(C;C) 4 dominant mutation leading to Familial Hypercholesterolemia
ReferenceGRCh38 38.1/141
Chromosome19
Position11120443
GeneLDLR
is asnp
is mentioned by
dbSNPrs137853965
ebirs137853965
HLIrs137853965
Exacrs137853965
Varsomers137853965
Maprs137853965
PheGenIrs137853965
hapmaprs137853965
1000 genomesrs137853965
hgdprs137853965
ensemblrs137853965
gopubmedrs137853965
geneviewrs137853965
scholarrs137853965
googlers137853965
pharmgkbrs137853965
gwascentralrs137853965
openSNPrs137853965
23andMers137853965
23andMe allrs137853965
SNP Nexus

SNPshotrs137853965
SNPdbers137853965
MSV3drs137853965
GWAS Ctlgrs137853965
Max Magnitude4
The C allele of this SNP in the low density lipoprotein receptor LDLR gene, which is a dominant insertion mutation also known as p.N688QfsX29, causes familial hypercholesterolemia. [PMID 16159606]
ClinVar
Risk rs137853965(C;C)
Alt rs137853965(C;C)
Reference rs137853965(;)
Significance Pathogenic
Disease not provided Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN not provided Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11231119dupC
CLNSRC LDLR @ LOVD
CLNACC RCV000058921.1, RCV000211582.2,


[PMID 19602640OA-icon.png] The ClinSeq Project: piloting large-scale genome sequencing for research in genomic medicine.