Table 2 Top variants mapping within introns 1, 2, 3 and up to 100-kb upstream of the annotated MITF TSS, with conservation (GERP) score for 32 amniota vertebrates (Ensembl Bos taurus v92.31—UMD3.1)
Variant reference ID | Genomic position | GERP score | Constrained element | p-value |
|---|---|---|---|---|
rs209784468 | Chr22 g.31769747A>G | 1.21 | Yes | 1.83 × 10−79 |
rs461193589 | Chr22 g.31783093T>C | 0.07 | No | 8.67 × 10−79 |
NA | Chr22 g.31768931A>T | − 1.85 | No | 6.11 × 10−77 |
rs433645096 | Chr22 g.31768933A>T | 0.92 | No | 1.59 × 10−76 |
rs208958980 | Chr22 g.31769772T>C | 1.21 | No | 1.59 × 10−76 |
NA | Chr22 g.31768928TG>T | − 0.22 | No | 2.29 × 10−76 |
rs385179918 | Chr22 g.31780393C>A | 0 | No | 6.69 × 10−76 |
rs110372927 | Chr22 g.31774043C>T | − 1.52 | No | 7.97 × 10−76 |
rs384965533 | Chr22 g.31807384A>G | 0.2 | No | 8.11 × 10−73 |
rs109143893 | Chr22 g.31805754C>T | − 1.25 | No | 1.28 × 10−72 |
rs385825679 | Chr22 g.31811182C>T | 0 | No | 2.82 × 10−72 |
rs209226877 | Chr22 g.31873774A>C | 0.65 | No | 4.06 × 10−72 |
rs109756444 | Chr22 g.31853470A>G | − 1.69 | No | 5.25 × 10−72 |
rs378395938 | Chr22 g.31838217G>A | − 0.08 | No | 6.63 × 10−72 |
rs110467669 | Chr22 g.31849617A>G | − 1.69 | No | 6.63 × 10−72 |
rs110989002 | Chr22 g.31812468A>T | − 0.09 | No | 8.75 × 10−71 |
rs110743578 | Chr22 g.31821264C>G | − 1.69 | No | 1.54 × 10−70 |
rs110276495 | Chr22 g.31863698C>T | − 0.4 | No | 2.59 × 10−70 |