Table 2 Genome-wide significant large-effect BMI variants identified in the GWAS meta-analysis

From: Missense variants in FRS3 affect body mass index in populations of diverse ancestries

          

EAF range per ancestry (%)

Locus

rs-ID

Chr

Position (hg38)

EA/

OA

Functional annotation

Protein change

P-value

Effect

(SD)

95% CI

FIN

EUR

SAS

EAS

AFR

MC4R

rs13447324

chr18

60372245

T/G

Stop gained

p.Tyr35Ter

2.5 × 10−13

0.60

0.44, 0.76

0

0–0.009

0

0

0–0.002

MC4R

rs948848696

chr18

59901310

A/T

3’ UTR in PMAIP1a

NA

2.1 × 10−10

0.85

0.59, 1.11

0

0–0.008

0

0

0–0.006

TMEM18

rs539478649

chr2

180386

C/T

Intergenic

NA

3.3 × 10−12

−0.21

−0.27, −0.15

0.074

0.020–0.267

0–0.007

0

0–0.009

FRS3

rs773053137

chr6

41772870

T/C

Missense

p.Glu115Lys

6.6 × 10−12

−0.21

−0.27, −0.15

0.174

0

0

0

0

  1. The table shows the associations of genome-wide significant large-effect variants identified in our BMI GWAS meta-analysis. Associations for individual studies are listed in Supplementary Data 6.
  2. Chr chromosome, EA effect allele, OA other allele, UTR untranslated region, SD standard deviations, CI confidence interval, EAF effect allele frequency, FIN Finnish, EUR European (non-Finnish), SAS South Asian, EAS East Asian, AFR African.
  3. aThis 3’ UTR variant in PMAIP1 was highly correlated with a 260 kb deletion at the MC4R locus.
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