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Prueba de un solo locus : para variantes en MAF < 1% , La estadstica de prueba est
desinflada lo que refleja la baja potencia de las pruebas de regresin para alelos muy raros.
Tabla 1 da resultados para variantes P < 1 103
For all results at P < 0.001, the MAF in the UK population lies between the case and control MAF values,
consistent with inflated estimates of effect size at this end of the significance distribution as a result of the
winners' curse effect.
Table 4
SNP
CHR BP
MAF (%)
Annotation
exm1453333
19
33628616
0,018
0,4506 nonsynonymous
exm1453361
19
33639755
0,018
0,4296 nonsynonymous
exm1453363
19
33639807
0,004
0,9993 nonsynonymous
exm1453378
19
33651385
0,007
0,6803 nonsynonymous
exm1453379
19
33651386
0,062
0,001724 nonsynonymous
exm1453382
19
33655154
0,026
0,07857 nonsynonymous
exm1453389
19
33666345
0,015
0,9986 nonsynonymous
Mutation_Taster
Not disease causing
Not disease causing
Not disease causing
Not disease causing
Not disease causing
Not disease causing
Not disease causing
Polyphen prediction
Benign
Probably damaging
Possibly damaging
Probably damaging
Benign
Benign
Benign
Richards, A., Leonenko, G., Walters, J., Kavanagh, D., Rees, E., Evans, A., Chambert, K., Moran,
J., Goldstein, J., Neale, B., McCarroll, S., Pocklington, A., Holmans, P., Owen, M. and O'Donovan,
M. (2016). Exome arrays capture polygenic rare variant contributions to schizophrenia. Hum. Mol.
Genet., 25(5), pp.1001-1007.