CHR | Gene | #SNPs (High; low HbF level) | Exonic Function | # SP1 |
---|---|---|---|---|
chr19 | ZBTB7A | 2; 1 | Nonsynonymous | MutationTaster, FATHMM, fathmm-MKL, RadialSVM, LR, PROVEAN, MetaSVM, MetaLR, CADD, GERP++, DANN, M-CAP, Eigen, GenoCanyon, Polyphen2 HVAR, Polyphen2 HDIV, PhyloP and SiPhy |
chr12 | CHD4 | 11; 4 | Nonsynonymous | SIFT, LRT, MutationTaster, MutationAssessor, FATHMM, fathmm-MKL, RadialSVM, LR, PROVEAN, MetaSVM, MetaLR, CADD, GERP++, DANN, M-CAP, GenoCanyon, Polyphen2 HVAR, Polyphen2 HDIV |
chr11 | HBB | 3; 2 | Nonsynonymous | SIFT, LRT, MutationAssessor, FATHMM, fathmm-MKL, RadialSVM, LR, ROVEAN, MetaSVM, MetaLR, CADD, DANN, Polyphen2 HVAR, Polyphen2 HDIV, PhyloP and SiPhy |
chr19 | PGLYRP1 | 4; 4 | Nonsynonymous | SIFT, LRT, MutationAssessor, FATHMM, fathmm-MKL, RadialSVM, LR, PROVEAN, MetaSVM, DANN, M-CAP, GenoCanyon, Polyphen2 HVAR, Polyphen2 HDIV, PhyloP and SiPhy |
chr19 | MBD3 | 1; 2 | Stop-gain | SIFT, LRT, MutationTaster, MutationAssessor, LR, PROVEAN, MetaSVM, MetaLR, CADD, GERP++, DANN, M-CAP, Eigen, GenoCanyon, Polyphen2 HVAR, Polyphen2 HDIV, PhyloP and SiPhy |
chr6 | MYB | 1; 1 | Nonsynonymous | SIFT, LRT, MutationTaster, MutationAssessor, FATHMM, fathmm-MKL, RadialSVM, LR, PROVEAN, MetaSVM, MetaLR, CADD, GERP++, DANN, M-CAP, GenoCanyon, Polyphen2 HVAR, Polyphen2 HDIV, PhyloP |