rs13130484

This is a intergenic variant variant.

GWAS Catalog Trait Associations (13)

Genome-wide significant associations (p < 5×10⁻⁸) from the NHGRI-EBI GWAS Catalog.

overnutrition, obesity

Verma A et al. Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.06
p 2.0e-42
N 406,236
Major Consortium StudyLarge GWAS
European

waist-hip ratio

Allele T
OR 0.01
p 8.0e-18
N 697,734
Meta-analysisLarge GWAS
European

type 2 diabetes mellitus

Verma A et al. Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.04
p 2.0e-16
N 612,947
Major Consortium StudyLarge GWAS
multi-ancestry
Allele C
OR 0.04
p 9.0e-11
N 251,740
Large GWAS
European

diabetic neuropathy

Verma A et al. Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele C
OR 0.05
p 2.0e-15
N 434,644
Major Consortium StudyLarge GWAS
European

grip strength measurement

Allele T
OR 0.00
p 1.0e-12
N 334,825
Major Consortium StudyLarge GWAS
European

physical activity measurement, body mass index

Allele T
OR 0.04
p 6.0e-12
N 161,368
Meta-analysisLarge GWAS
multi-ancestry

atrial fibrillation

Allele T
OR 0.02
p 8.0e-9
N 1,840,341
Large GWAS
European

body mass index

Verma A et al. Diversity and scale: Genetic architecture of 2068 traits in the VA Million Veteran Program. Science (new York, N.y.) 385(6706):eadj1182 (2024)
Allele T
OR 0.06
p 4.0e-75
N 607,406
Major Consortium StudyLarge GWAS
multi-ancestry
Allele T
OR 0.03
p 8.0e-86
N 374,756
Meta-analysisLarge GWAS
European
Allele T
OR 0.05
p 1.0e-41
N 153,950
Large GWAS
East Asian
Allele T
OR 0.04
p 2.0e-10
N 43,434
Large GWAS
European
Allele T
OR 0.07
p 2.0e-23
N 34,744
Large GWAS
European
Allele T
OR 0.06
p 5.0e-8
N 21,930
Large GWAS
East Asian
Allele T
OR 0.05
p 6.0e-9
N 13,627
Large GWAS
European

Research that mentions this SNP (2)

Genetic variation of FTO: rs1421085 T&gt;C, rs8057044 G&gt;A, rs9939609 T&gt;A, and copy number (CNV) in Mexican Mayan school‐aged children with obesity/overweight and with normal weight
ReviewLizbeth González‐Herrera et al.(2019)· American Journal of Human Biology

A literature review of 70 studies examining single nucleotide polymorphisms (SNPs) associated with obesity in Mexican populations published 2011-2021. The authors identified SNPs with differential behavior in Mexican compared to Caucasian populations, including rs17782313 (MC4R), rs6548238 (TMEM18), rs6265 (BDNF), rs7498665 (SH2B1), and notably rs6232 (PCSK1) associated with early-onset obesity in Mexican youth. The review emphasizes ethnicity-dependent genetic effects on BMI heritability (40-70%) and highlights genes involved in cholesterol metabolism and adipokine signaling pathways.

Traits studied:AdiposityBlood pressureBody mass index (BMI)Cardiovascular risk factorsDyslipidemiaInsulin resistanceMetabolic syndromeObesityOverweightType 2 diabetes
Obesity-susceptibility loci and the tails of the pediatric BMI distribution
AssociationN=7,225Jonathan A. Mitchell et al.(2013)· Obesity

This study examined 8 adult obesity-susceptibility loci in 7,225 children aged 2-18 years using quantile regression to assess whether genetic effects on BMI are uniform across the BMI distribution. The authors found that obesity risk alleles (FTO rs3751812, MC4R rs12970134, TMEM18 rs2867125, BDNF rs6265, SEC16B rs10913469, GNPDA2 rs13130484, NRXN3 rs10146997, and TNNI3K rs1514175) were more strongly associated with BMI increases at the upper tail of the distribution (85th-95th percentiles, β=0.06-0.11, p<10^-6) compared to the lower tail, suggesting that standard linear regression approaches may underestimate genetic effects on childhood obesity.

Traits studied:BMIChildhood obesityObesity

This variant is in our database but has no known associations or PRS memberships yet.

Gene information from NCBI Gene. Variant classifications from ClinVar.

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