Table 6 Characterization of predicted deleterious and high impact SNPs annotated in 11 positional candidate genes
Gene | GGA | SNP ID | Position1 | Annotation | SIFT score | AA substitution |
|---|---|---|---|---|---|---|
AKR1D1 | 1 | rs316370743 | 56,636,977 | Deleterious | 0.01 | Met/Ile |
HSP90AB1 | 3 | rs737959833 | 30,358,254 | Deleterious | 0.03 | Thr/Ala |
rs737623405 | 30,357,799 | High impact (Stop lost) | – | */Arg | ||
KLB | 4 | rs740538348 | 69,722,817 | Deleterious | 0.02 | Arg/Trp |
RBM47 | 4 | rs313177163 | 69,358,984 | Deleterious | 0.00 | Arg/Cys |
PPARGC1A | 4 | rs739990319 | 74,565,856 | Deleterious | 0.00 | Arg/Gly |
rs16435584 | 74,566,888 | Deleterious | 0.01 | Asp/Asn | ||
rs731752899 | 74,590,596 | Deleterious | 0.01 | Asn/Asp | ||
NR4A2 | 7 | g.36224286C > T (Novel) | 36,224,286 | Deleterious | 0.00 | Val/Met |
g.36225242G > T (Novel) | 36,225,242 | Deleterious | 0.00 | Arg/Ser | ||
g.36225278C > T (Novel) | 36,225,278 | Deleterious | 0.01 | Val/Met | ||
ACVR1 | 7 | rs312541186 | 36,479,417 | Deleterious | 0.01 | Trp/Arg |
GRIN2A | 14 | rs316241099 | 9,451,676 | High impact (Splice acceptor) | – | – |
KCNJ5 | 24 | rs312300440 | 1,075,890 | Deleterious | 0.02 | Leu/Pro |
SLC35B1 | 27 | g.3338981C > T (Novel) | 3,338,981 | High impact (Stop gained) | – | Gln/* |
ANGPTL4 | 28 | g.846035G > A (Novel) | 846,035 | Deleterious | 0.03 | Ser/Phe |