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. 2021 Jun 1;13:59. doi: 10.1186/s13098-021-00670-3

Table 3.

Significantly-associated MetS QTNs with functional annotation

Ethnic group Trait Gene (distance in basepairs) from refGene Function (refGene) CHR Basepair (hg19) rsid Alleles Functional annotations with thresholdsa
FATHMM-MLK (noncoding > 0.50) GWAVA (TSS) > 0.40 CADD v1.3 (phred-scaled) > 10 EIGEN > 0
AA log(TG)

FAM89A(120,755)

TRIM67(1919)

Intergenic 1 231,296,755 rs75219957 G/C 0.20 0.62 4.48 0.38
AA log(TG)

MIR4283-1(273,158)

ZNF722P(104,479)

Intergenic 7 63,354,705 rs73123056 A/C 0.97 0.21 3.38 0.61
EA log(TG) GCKR Exonic-NSVb 2 27,730,940 rs1260326 T/C 0.02c 0.20 0.11 0.29
EA Weight

GLI2(86,646)

TFCP2L1(137,289)

Intergenic 2 121,836,875 rs139940998 A/G 0.63 0.46 19.05 0.69
JA Weight QRFPR Intronic 4 122,258,149 rs2302308d G/T 0.12 0.34 3.83 0.02
JA Weight QRFPR Intronic 4 122,260,042 rs17051338 G/T 0.23 0.31 7.28 0.33
JA Weight QRFPR Intronic 4 122,264,692 rs77438622 G/C 0.12 0.21 6.40 0.09
JA Weight QRFPR Intronic 4 122,270,900 rs77006299 C/A 0.21 0.22 1.33 0.03
JA Waist STIM1 Intronic 11 3,972,232 rs146792726 A/G 0.14 0.12 4.48 0.08
JA Waist STIM1 Intronic 11 4,063,916 rs147605117 G/C 0.15 0.17 10.86 0.28
MA Glucose

NR3C2(195,478)

LOC105377480(300,770)

Intergenic 4 149,561,328 rs76209611 G/T 0.18 0.2 6.35 0.08

AA African Americans, EA, European Americans, JA, Japanese Americans, MA, Mexican Americans

aBolded scores beyond recommended thresholds indicate QTNs with a deleterious or functional role

bExonic, nonsynonymous variant

cFATHMM-MLK coding score shown

dRegSNPs-intron probability of disease-causing was 0.79 and only annotated for variant rs2302308