Table 5 Peak variants with protein sequence mutations
Locus | Phenotype | ID | Class | LD | Gene | Description | VEP | SIFT |
|---|---|---|---|---|---|---|---|---|
chr3:15.52Mbp | LC | rs109816684 | Splice Region | 0.997 | SLC50A1 | c.282+7G>A | L | — |
chr6:37.76Mbp | LC | rs43702337 | Missense | 1.000 | ABCG2 | Y581S | M | 0.00 (D) |
chr6:89.04Mbp | LC | rs110326785 | Missense | 0.987 | NPFFR2 | E392K | M | 0.56 (T) |
chr15:28.36Mbp | LC | rs208325660 | Missense | 0.967 | RNF214 | G105E | M | 0.07 (TLC) |
chr16:24.99Mbp | LC | rs110899826 | Missense | 0.986 | MARC1 | P194R | M | 0.27 (T) |
chr16:24.99Mbp | LC | rs109896036 | Splice Region | 0.986 | MARC1 | c.628-5C>T | L | — |
chr19:42.99Mbp | LC | rs377779402 | Splice Donor | 1.000 | KCNH4 | c.2663+2T>C | H | — |
chr19:42.99Mbp | LC | rs209410283 | Missense | 1.000 | KCNH4 | S136R | M | 0.13 (T) |
chr19:42.99Mbp | LC | rs211002889 | Missense | 1.000 | GHDC | P335R | M | 0.55 (T) |
chr19:42.99Mbp | LC | rs208379505 | Missense | 1.000 | GHDC | P233A | M | 0.03 (D) |
chr19:42.99Mbp | LC | rs207799702 | Splice Region | 0.999 | KAT2A | c.700-7C>G | L | — |
chr19:42.99Mbp | LC | rs211108888 | Splice Region | 0.996 | KAT2A | c.1723-8T>C | L | — |
chr19:42.99Mbp | LC | rs133665517 | Missense | 0.956 | STAT5B | G40S | M | 1.00 (T) |
chr19:42.99Mbp | LC | rs381010891 | Missense | 0.919 | ZNF385C | P210A | M | 0.29 (T) |
chr19:42.99Mbp | LC | rs132867911 | Missense | 0.919 | FKBP10 | T261I | M | 0.75 (T) |
chr19:42.99Mbp | LC | rs209920132 | Splice Region | 0.916 | ACLY | c.1846-3T>C | L | — |
chr19:42.99Mbp | LC | rs209373086 | Splice Region | 0.915 | JUP | c.1055-4C>G | L | — |
chr14:1.77Mbp | LY | rs109234250 | Missense | 1.000 | DGAT1 | A232K | M | 1.00 (T) |
chr14:1.77Mbp | LY | rs134364612 | Missense | 1.000 | SLC52A2 | K242E | M | 1.00 (T) |
chr14:1.77Mbp | LY | rs135258919 | Missense | 0.902 | HSF1 | V344A | M | 1.00 (T) |