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. 2022 Nov 23;14:132. doi: 10.1186/s13073-022-01135-6

Table 1.

Single-variant association results for variants reaching exome-wide significance (p<4.3×10−7), or with evidence of replication in type 1 diabetes (p<0.05) or in the general population (p<0.05/27/8=2.3×10−4)

Gene Variant MAF SIFT/PolyPhen Phenotype N P-value Beta (se) PRepl P lipids
LIPC 15:58563549 C>T p.Thr405Met rs113298164 0.017 Deleterious, probably damaging apoA1 918 7.8×10−8 0.98 (0.18) 0.89 apoA (UKBB): p=9.3×10−46
GTF3C5 9:133054787 C>T p.Ala382Val rs202207045 0.007b Tolerated, benign LDLC 894 1.3×10−6 −1.35 (0.28) 0.02 LDLC (Hindy): p=0.125
GTF3C5 9:133054787 C>T p.Ala382Val rs202207045 0.007b Tolerated, benign Non-HDLC 919 7.3×10−7 −1.38 (0.28) 0.02 Non-HDLC (Hindy) p=0.199
FNDC3A 13:49201861 A>G p.Thr1017Ala rs45604939 0.064 Deleterious, probably damaging CHOLa 748 8.8×10−6 0.46 (0.10) 0.04 CHOL (Hindy) p=0.35
PPIC 5:123023945 T>C p.Asn190Ser rs451195 0.156 Deletorious, benign HDLFC L 487 5.0×10−6 0.43 (0.09) 0.87 HDLC (GLGC) p=2.1×10−7
ZNF274 19:58206912 A>G p.Gln118Arg rs45580533 0.021 Tolerated, benign VLDL L 487 9.3 ×10−6 −1.02 (0.23) 0.87 LDL (GLGC) p=3.0×10−13
ZNF274 19:58206912 A>G p.Gln118Arg rs45580533 0.021 Tolerated, benign VLDLTG L 748 5.5 ×10−6 −10.5 (0.23) 0.81 TG (GLGC) p=0.003

Variant chromosome:base pair position with REF>ALT alleles, amino acid change, and rs identifier, MAF minor allele frequency, SIFT/Polyphen predicted effect, Beta (se) effect size beta and standard error, PReplP-value for replication in GWAS data, P lipids the lowest p-value within the GLGC GWAS, UKBB WES, and lipid WES (Hindy et al.) for the corresponding or closest matching lipid phenotype

ars45604939 association with total cholesterol was obtained for the NMR measured total cholesterol; replication with standard laboratory total cholesterol

brs202207045 MAF in Hindy et al. was markedly lower, 2.5×10−5