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rs17249141

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs17249141(C;T)
Make rs17249141(T;T)
ReferenceGRCh38 38.1/141
Chromosome19
Position11089332
GeneLDLR
is asnp
is mentioned by
dbSNPrs17249141
ebirs17249141
HLIrs17249141
Exacrs17249141
Varsomers17249141
Maprs17249141
PheGenIrs17249141
hapmaprs17249141
1000 genomesrs17249141
hgdprs17249141
ensemblrs17249141
gopubmedrs17249141
geneviewrs17249141
scholarrs17249141
googlers17249141
pharmgkbrs17249141
gwascentralrs17249141
openSNPrs17249141
23andMers17249141
23andMe allrs17249141
SNP Nexus

SNPshotrs17249141
SNPdbers17249141
MSV3drs17249141
GWAS Ctlgrs17249141
GMAF0.004132
Max Magnitude0
GWAS snp
PMID [PMID 23726366OA-icon.png]
Trait LDL cholesterol
Title Genome-wide Characterization of Shared and Distinct Genetic Components that Influence Blood Lipid Levels in Ethnically Diverse Human Populations.
Risk Allele T
P-val 2E-17
Odds Ratio 32.93 [NR] unit decrease


ClinVar
Risk rs17249141(T;T)
Alt rs17249141(T;T)
Reference rs17249141(C;C)
Significance Probable-non-pathogenic
Disease Familial hypercholesterolemia
Variation info
Gene LDLR
CLNDBN Familial hypercholesterolemia
Reversed 0
HGVS NC_000019.9:g.11200008C>T
CLNSRC LDLR @ LOVD
CLNACC RCV000237379.1,