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rs2073658

From SNPedia

Orientationminus
Stabilizedminus
Make rs2073658(A;A)
Make rs2073658(A;G)
Make rs2073658(G;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position161040972
GeneTSTD1, USF1
is asnp
is mentioned by
dbSNPrs2073658
ebirs2073658
HLIrs2073658
Exacrs2073658
Varsomers2073658
Maprs2073658
PheGenIrs2073658
hapmaprs2073658
1000 genomesrs2073658
hgdprs2073658
ensemblrs2073658
gopubmedrs2073658
geneviewrs2073658
scholarrs2073658
googlers2073658
pharmgkbrs2073658
gwascentralrs2073658
openSNPrs2073658
23andMers2073658
23andMe allrs2073658
SNP Nexus

SNPshotrs2073658
SNPdbers2073658
MSV3drs2073658
GWAS Ctlgrs2073658
GMAF0.2158
Max Magnitude
OMIM191523
DescHYPERLIPIDEMIA, FAMILIAL COMBINED, SUSCEPTIBILITY TO
Variant0002
Relatedalso

[PMID 18097648] rs2073658 a borderline association with metabolic syndrome was observed (p = 0.036, IDF), the minor allele being the risk-increasing allele. The minor allele of rs2073658 also associated with higher total and LDL-cholesterol, apolipoprotein B-100 and lipoprotein(a) concentrations in longitudinal analyses.

[PMID 18445538] rs2073658 is associated with a modestly increased risk to develop type 2 diabetes in Dutch Caucasians, with considerable impact at the population level.


[PMID 20031629] Functional Variant Disrupts Insulin Induction of USF1: Mechanism for USF1-Associated Dyslipidemias


[PMID 22460558] Potential Role of Upstream Stimulatory Factor 1 Gene Variant in Familial Combined Hyperlipidemia and Related Disorders


[PMID 15657872OA-icon.png] Association testing in a linked region using large pedigrees.


[PMID 15959806] Upstream stimulatory factor 1 associated with familial combined hyperlipidemia, LDL cholesterol, and triglycerides.


[PMID 15976322] Familial combined hyperlipidemia in Mexicans: association with upstream transcription factor 1 and linkage on chromosome 16q24.1.


[PMID 16186412] Common polymorphisms in the USF1 gene are not associated with type 2 diabetes in French Caucasians.


[PMID 16699592OA-icon.png] Risk alleles of USF1 gene predict cardiovascular disease of women in two prospective studies.


[PMID 18276913OA-icon.png] Association analysis of allelic variants of USF1 in coronary atherosclerosis.


[PMID 18303204OA-icon.png] Body mass index is associated with USF1 haplotype in Korean premenopausal women.


[PMID 18974842OA-icon.png] Gender differences in genetic risk profiles for cardiovascular disease.


ClinVar
Risk rs2073658(A;A)
Alt rs2073658(A;A)
Reference rs2073658(G;G)
Significance Other
Disease Hyperlipidemia
Variation info
Gene TSTD1 USF1
CLNDBN Hyperlipidemia, familial combined, susceptibility to
Reversed 1
HGVS NC_000001.10:g.161010762C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013089.2,