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rs4917

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;C)
Make rs4917(C;C)
Make rs4917(C;T)
Make rs4917(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position186619924
GeneAHSG
is asnp
is mentioned by
dbSNPrs4917
ebirs4917
HLIrs4917
Exacrs4917
Varsomers4917
Maprs4917
PheGenIrs4917
hapmaprs4917
1000 genomesrs4917
hgdprs4917
ensemblrs4917
gopubmedrs4917
geneviewrs4917
scholarrs4917
googlers4917
pharmgkbrs4917
gwascentralrs4917
openSNPrs4917
23andMers4917
23andMe allrs4917
SNP Nexus

SNPshotrs4917
SNPdbers4917
MSV3drs4917
GWAS Ctlgrs4917
GMAF0.2943
Max Magnitude
? (C;C) (C;T) (T;T) 28
rs4917 is thought to regulate body fat levels and insulin sensitivity. see obesity

link1 the MET/MET genotype has been previously linked with reduced plasma lipid levels and lower body fat concentrations.

link2 Homozygosity for the rs2593813:G-rs4917:Met-rs4918:Ser haplotype conferred an increased risk for leanness (odds ratio=1.90, P=0.027).

Neighborrs4918
Distance669
Neighborrs2518136
Distance114


[PMID 19358088] AHSG Gene Variation is not Associated with Regional Body Fat Distribution - A Magnetic Resonance Study.

OMIM138680
DescALPHA-2-HS-GLYCOPROTEIN; AHSG
Variant
Relatedalso


[PMID 20031641] Association of AHSG Gene Polymorphisms With Fetuin-A Plasma Levels and Cardiovascular Diseases in the EPIC-Potsdam Study


[PMID 21904596OA-icon.png] Genetic Variation of the Human ?-2-Heremans-Schmid Glycoprotein (AHSG) Gene Associated with the Risk of SARS-CoV Infection


ClinVar
Risk rs4917(C;C)
Alt rs4917(C;C)
Reference rs4917(T;T)
Significance Other
Disease Leanness
Variation info
Gene AHSG
CLNDBN Leanness, susceptibility to
Reversed 0
HGVS NC_000003.11:g.186337713T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000017418.2,



[PMID 15806395] AHSG gene variant is associated with leanness among Swedish men.


[PMID 16024912] Polymorphism of the AHSG gene is associated with increased adipocyte beta2-adrenoceptor function.


[PMID 18316360] AHSG tag single nucleotide polymorphisms associate with type 2 diabetes and dyslipidemia: studies of metabolic traits in 7,683 white Danish subjects.


[PMID 18805939OA-icon.png] Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.


[PMID 22024217] Are AHSG polymorphisms directly associated with coronary atherosclerosis?


[PMID 22101880] An AHSG gene variant modulates basal metabolic rate and body composition development after a short-time lifestyle intervention.


GET Evidence
AHSG-M248T
aa_change Met248Thr
aa_change_short M248T
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.68721
summary



[PMID 24265586OA-icon.png] Lack of Association Between Variants within the AHSG , HCRT and NPY2R Genes and Anthropometrical Parameters in Czech Post-Monica Study


[PMID 23801724OA-icon.png] Genetically elevated fetuin-A levels, fasting glucose levels, and risk of type 2 diabetes: the cardiovascular health study.


[PMID 26549924OA-icon.png] Allelic Imbalance of mRNA Associated with α2-HS Glycoprotein (Fetuin-A) Polymorphism