From: A negative screen for mutations in calstabin 1 and 2 genes in patients with dilated cardiomyopathy
Gene | Site | MAF: cases (n = 186) | Reference (coding DNA) | MAF: controls (n = 288) | p value | Risk by bioinformatics analyses |
---|---|---|---|---|---|---|
FKBP12 | Promoter | 0.0026 | -40C>A | 0.0052 | 0.25 | - |
FKBP12 | Promoter | 0.0026 | -7G>A | 0 | - | Low |
FKBP12 | Exon 1 - 5' UTR | 0.0026 | c.-72C>G | 0 | - | None |
FKBP12 | Exon 1 - 5' UTR | 0.0026 | c.-65C>G | 0 | - | None |
FKBP12.6 | Exon 4 - 3'UTR | 0.0026 | c.*26G>A | 0.0017 | 0.55 | - |