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rs137853966

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 4 dominant mutation leading to Familial Hypercholesterolemia
(-;G) 4 dominant mutation leading to Familial Hypercholesterolemia
(G;G) 0 common in clinvar
ReferenceGRCh38 38.1/141
Chromosome19
Position11105559
GeneLDLR
is asnp
is mentioned by
dbSNPrs137853966
ebirs137853966
HLIrs137853966
Exacrs137853966
Varsomers137853966
Maprs137853966
PheGenIrs137853966
hapmaprs137853966
1000 genomesrs137853966
hgdprs137853966
ensemblrs137853966
gopubmedrs137853966
geneviewrs137853966
scholarrs137853966
googlers137853966
pharmgkbrs137853966
gwascentralrs137853966
openSNPrs137853966
23andMers137853966
23andMe allrs137853966
SNP Nexus

SNPshotrs137853966
SNPdbers137853966
MSV3drs137853966
GWAS Ctlgrs137853966
Max Magnitude4
The - (deletion) allele of this SNP in the low density lipoprotein receptor LDLR gene is a dominant mutation that causes familial hypercholesterolemia. [PMID 7649546]
ClinVar
Risk rs137853966(;)
Alt rs137853966(;)
Reference rs137853966(G;G)
Significance Pathogenic
Disease not provided Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN not provided Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11216235delG
CLNSRC LDLR @ LOVD
CLNACC RCV000058918.1, RCV000237824.1,


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