Research Article
Regression Modeling and Meta-Analysis of Diagnostic Accuracy of SNP-Based Pathogenicity Detection Tools for UGT1A1 Gene Mutation
Table 1
Prediction results of SNP-based pathogenicity detection tools compared with the published results.
| |
0 | SNP-ID | Variant | SIFT | PhD-SNP | PolyPhen-2 | fathmm | Provean | MutPred | References |
| | (1) | rs74720349 | V3G | 1 | 0 | 0 | 0 | 0 | 1 | 0 | | (2) | rs201984525 | L11P | 0 | 1 | 0 | 0 | 0 | 1 | 0 | | (3) | rs111033541 | L15R | 1 | 1 | 1 | 0 | 1 | 1 | 1 | | (4) | rs72551339 | H39D | 1 | 1 | 1 | 1 | 1 | 1 | 1 | | (5) | rs140365717 | E56A | 1 | 0 | 1 | 1 | 1 | 1 | 0 | | (6) | rs4148323 | G71R | 0 | 1 | 1 | 1 | 0 | 0 | 1 | | (7) | rs72551340 | F83I | 0 | 1 | 0 | 1 | 1 | 0 | 1 | | (8) | rs144217005 | V109A | 0 | 1 | 0 | 1 | 0 | 0 | 0 | | (9) | rs140867457 | I116K | 0 | 0 | 0 | 1 | 1 | 0 | 0 | | (10) | rs200734586 | K118N | 0 | 0 | 0 | 1 | 0 | 1 | 0 | | (11) | rs72551341 | L175Q | 1 | 0 | 1 | 1 | 1 | 1 | 1 | | (12) | rs72551342 | C177R | 0 | 0 | 1 | 1 | 1 | 1 | 1 | | (13) | rs201093245 | Y192C | 1 | 0 | 1 | 1 | 1 | 1 | 0 | | (14) | rs72551343 | R209W | 1 | 0 | 1 | 1 | 1 | 1 | 1 | | (15) | rs144398951 | I215V | 0 | 0 | 0 | 1 | 0 | 0 | 0 | | (16) | rs144721642 | V225M | 0 | 0 | 0 | 1 | 0 | 0 | 0 | | (17) | rs35003977 | V225G | 0 | 0 | 0 | 1 | 1 | 1 | 1 | | (18) | rs35350960 | P229Q | 0 | 1 | 1 | 1 | 0 | 1 | 1 | | (19) | rs147640261 | T232N | 0 | 0 | 0 | 1 | 0 | 1 | 0 | | (20) | rs57307513 | S250P | 0 | 1 | 0 | 1 | 0 | 1 | 0 | | (21) | rs141950052 | P267R | 1 | 1 | 1 | 1 | 1 | 1 | 0 | | (22) | rs143072292 | V273F | 1 | 1 | 0 | 1 | 1 | 1 | 0 | | (23) | rs72551345 | G276R | 1 | 1 | 1 | 1 | 1 | 1 | 1 | | (24) | rs72551347 | I294T | 1 | 0 | 1 | 1 | 1 | 1 | 1 | | (25) | rs62625011 | G308E | 1 | 1 | 1 | 1 | 1 | 1 | 1 | | (26) | rs114000345 | K317E | 0 | 1 | 0 | 0 | 0 | 0 | 0 | | (27) | rs200903749 | I322V | 1 | 0 | 1 | 1 | 0 | 1 | 1 | | (28) | rs17851756 | I322T | 1 | 1 | 1 | 1 | 1 | 1 | 0 | | (29) | rs202035422 | I329T | 1 | 0 | 1 | 1 | 1 | 1 | 1 | | (30) | rs72551348 | Q331R | 1 | 1 | 1 | 1 | 1 | 1 | 1 | | (31) | rs139607673 | R336W | 1 | 1 | 1 | 1 | 1 | 1 | 1 | | (32) | rs144978321 | S343L | 0 | 1 | 1 | 1 | 1 | 1 | 0 | | (33) | rs149750520 | N344K | 1 | 0 | 1 | 1 | 1 | 0 | 0 | | (34) | rs201372184 | A346V | 1 | 1 | 1 | 1 | 0 | 1 | 1 | | (35) | rs72551351 | Q357R | 1 | 1 | 1 | 1 | 1 | 1 | 1 | | (36) | rs34946978 | P364L | 0 | 0 | 1 | 1 | 1 | 0 | 0 | | (37) | rs55750087 | R367G | 1 | 0 | 1 | 1 | 1 | 1 | 1 | | (38) | rs72551352 | A368T | 1 | 0 | 1 | 1 | 1 | 1 | 1 | | (39) | rs72551353 | S375F | 1 | 0 | 1 | 1 | 1 | 1 | 1 | | (40) | rs72551354 | S381R | 1 | 1 | 0 | 1 | 0 | 1 | 1 | | (41) | rs143573365 | V386I | 0 | 0 | 1 | 1 | 0 | 0 | 0 | | (42) | rs28934877 | N400H | 1 | 1 | 1 | 1 | 1 | 1 | 1 | | (43) | rs72551355 | A401P | 0 | 1 | 1 | 1 | 1 | 1 | 1 | | (44) | rs140613392 | R403H | 0 | 0 | 1 | 1 | 1 | 1 | 0 | | (45) | rs36076514 | V411L | 0 | 0 | 0 | 1 | 0 | 1 | 0 | | (46) | rs72551356 | K428E | 0 | 0 | 1 | 1 | 1 | 1 | 1 | | (47) | rs202172337 | M441T | 0 | 0 | 0 | 1 | 0 | 0 | 0 | | (48) | rs143033456 | R442C | 1 | 1 | 1 | 1 | 1 | 0 | 0 | | (49) | rs201427749 | R450C | 1 | 0 | 1 | 1 | 1 | 0 | 0 | | (50) | rs200370335 | R450H | 1 | 0 | 1 | 1 | 1 | 1 | 0 | | (51) | rs114982090 | P451L | 1 | 1 | 1 | 1 | 1 | 1 | 0 | | (52) | rs115410088 | F460L | 1 | 0 | 1 | 1 | 1 | 1 | 0 | | (53) | rs72551358 | E463A | 1 | 1 | 1 | 1 | 1 | 1 | 0 | | (54) | rs115944950 | E463D | 0 | 1 | 1 | 1 | 0 | 1 | 0 | | (55) | rs72551359 | L474M | 1 | 1 | 1 | 1 | 0 | 0 | 0 | | (56) | rs150687296 | R475H | 1 | 0 | 1 | 1 | 1 | 1 | 0 | | (57) | rs34993780 | S488C | 0 | 1 | 1 | 1 | 1 | 1 | 0 | | (58) | rs72551360 | V499M | 1 | 0 | 1 | 1 | 0 | 0 | 1 | | (59) | rs199723856 | A511P | 0 | 1 | 1 | 1 | 0 | 1 | 0 |
|
|
Disease: 1; neutral: 0; references: OMIM, PMID, SNPdbe, HGMD, and Swissvar results.
|
