Pleiotropic polymorphisms in the BABAM1 region that are located in exons and their predicted effect on the proteins
| SNP | Position | Gene | Nucleotide change | Amino acid change | EUR MAF | SIFT | PolyPhen-2 |
|---|---|---|---|---|---|---|---|
| rs8170 | 19:17389636 | BABAM1 | AAG ⇒ AAA | K [Lys] ⇒ K [Lys] | A:0.16 | n.a. | n.a. |
| rs10425939 | 19:17389155 | ANKLE1 | GGC ⇒ GGT | G [Gly] ⇒ G [Gly] | T:0.16 | n.a. | n.a. |
| rs10425939 | 19:17389155 | ANKLE1 | GCT ⇒ GTT | A [Ala] ⇒ V [Val] | T:0.16 | n.a. | n.a. |
| rs8100241 | 19:17392893 | ANKLE1 | GCG ⇒ ACG | A [Ala] ⇒ T [Thr] | A:0.58 | deleterious(0) | probably_damaging (0.998) |
| rs8108174 | 19:17393529 | ANKLE1 | CTG ⇒ CAG | L [Leu] ⇒ Q [Gln] | A:0.58 | deleterious(0) | probably_damaging (1) |
| rs2363956 | 19:17394123 | ANKLE1 | TTG ⇒ TGG | L [Leu] ⇒ W [Trp] | G:0.57 | deleterious(0.03) | probably_damaging (0.999) |
Abbreviation: EUR MAF, minor allele frequency in European population.