rs17249141

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar

Make rs17249141(C;T)

Make rs17249141(T;T)

Reference

GRCh38 38.1/141

Chromosome

19

Position

11089332

Gene

LDLR

is a	snp
is	mentioned by
dbSNP	rs17249141
dbSNP (classic)	rs17249141
ClinGen	rs17249141
ebi	rs17249141
HLI	rs17249141
Exac	rs17249141
Gnomad	rs17249141
Varsome	rs17249141
LitVar	rs17249141
Map	rs17249141
PheGenI	rs17249141
Biobank	rs17249141
1000 genomes	rs17249141
hgdp	rs17249141
ensembl	rs17249141
geneview	rs17249141
scholar	rs17249141
google	rs17249141
pharmgkb	rs17249141
gwascentral	rs17249141
openSNP	rs17249141
23andMe	rs17249141
SNPshot	rs17249141
SNPdbe	rs17249141
MSV3d	rs17249141
GWAS Ctlg	rs17249141

GMAF

0.004132

Max Magnitude

0

GWAS snp
PMID	[PMID 23726366]
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,