From: Aortic root aortopathy in bicuspid aortic valve associated with high genetic risk
Gene | PMID | Number of variants in 192 patients' alleles | Allele count in ExAC East Asia group | P value |
---|---|---|---|---|
GATA6 | 29653232 | 3 | 19 in 7684 | 0.016 |
GATA5 | 24796370 | 2 | 7 in 7858 | 0.018 |
NOTCH1 | 16025100 | 9 | 130 in 7778 | 0.006 |
TGFBR1 | 25145529 | 1 | 11 in 8132 | 0.244 |
TGFBR2 | 23578328 | 2 | 31 in 8228 | 0.173 |
FBN1 | 24564502 | 5 | 132 in 8614 | 0.227 |
ELN | 14666267 | 2 | 68 in 8224 | 0.675 |
EGFR | 26708639 | 1 | 61 in 8592 | > 0.999 |
FLNA | 21815255 | 2 | 122 in 6610 | > 0.999 |
ACTA2 | 17994018 | 0 | 10 in 8432 | N.A |
GATA4 | 21330551 | 0 | 144 in 7658 | N.A |
NKX2-5 | 25438918 | 0 | 10 in 7678 | N.A |
SMAD6 | 22275001 | 0 | 29 in 8050 | N.A |