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rs137853960

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853960(G;T)
Make rs137853960(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position11100303
GeneLDLR
is asnp
is mentioned by
dbSNPrs137853960
ClinGenrs137853960
ebirs137853960
HLIrs137853960
Exacrs137853960
Varsomers137853960
Maprs137853960
PheGenIrs137853960
hapmaprs137853960
1000 genomesrs137853960
hgdprs137853960
ensemblrs137853960
gopubmedrs137853960
geneviewrs137853960
scholarrs137853960
googlers137853960
pharmgkbrs137853960
gwascentralrs137853960
openSNPrs137853960
23andMers137853960
23andMe allrs137853960
SNP Nexus

SNPshotrs137853960
SNPdbers137853960
MSV3drs137853960
GWAS Ctlgrs137853960
GMAF0.0004591
Max Magnitude0
rs137853960, also known as A50S, is a SNP in the low density lipoprotein receptor LDLR gene.

This SNP is being studied in participants in the NIH ClinSeq program.[PMID 19602640OA-icon.png]

ClinVar
Risk rs137853960(A;A) rs137853960(T;T)
Alt rs137853960(A;A) rs137853960(T;T)
Reference Rs137853960(G;G)
Significance Other
Disease Familial hypercholesterolemia not specified not provided Hypercholesterolaemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia not specified not provided Hypercholesterolaemia
Reversed 0
HGVS NC_000019.9:g.11210979G>A; NC_000019.9:g.11210979G>T
CLNSRC LDLR @ LOVD UniProtKB (protein)
CLNACC RCV000238452.1, RCV000455469.1, RCV000058916.1, RCV000148578.1, RCV000210234.2, RCV000455660.1,