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Table 1 Tests for additional allelic or genotypic effect on association of p.L444P and p.N370S with severity of Gaucher disease

From: Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease

  ALLELIC GENOTYPIC
GBA2 SNP POShg18 MA MAFco MAFca P single P L444P P N370S P L444P P N370S
rs10814274 35724942 T 0.494 0.479 0.811 0.3971 0.1444 0.0585 0.3160
rs34312177 35730649 T 0.067 0.057 0.769 0.0213 0.3679 0.0650 0.5723
rs3833700 35738696 T 0.302 0.292 0.847 0.3050 0.4095 0.0197 0.7977
rs1570246 35738843 A 0.494 0.479 0.811 0.3971 0.1444 0.0585 0.3160
rs3750434 35738985 T 0.500 0.479 0.739 0.4098 0.1445 0.0620 0.3213
rs1570247 35739264 T 0.500 0.500 1.000 0.4339 0.3288 0.0735 0.4953
rs2236288 35739837 G 0.186 0.219 0.518 0.0895 0.9200 0.1329 0.7770
rs1570249 35741250 T 0.494 0.479 0.811 0.3971 0.1444 0.0585 0.3160
rs2145923 35742243 C 0.157 0.125 0.480 0.6267 0.2096 0.3936 0.3599
rs1322045 35742487 C 0.300 0.292 0.880 0.3138 0.4113 0.0205 0.7973
rs1570250 35742683 T 0.302 0.292 0.847 0.3050 0.4095 0.0197 0.7977
rs34478611 35743925 T 0.204 0.229 0.622 0.8899 0.6611 0.1400 0.4579
rs4878628 35744491 T 0.234 0.234 0.998 0.2716 0.6676 0.0058 0.7601
rs10814275 35748564 G 0.155 0.117 0.408 0.1883 0.4275 0.3808 0.7907
rs1570248 35756549 G 0.302 0.292 0.847 0.3050 0.4095 0.0197 0.7977
rs10972579 35766001 T 0.055 0.106 0.118 0.1054 0.6855 0.0344 0.8601
rs10972581 35769559 T 0.471 0.479 0.900 0.9124 0.2853 0.2255 0.3993
  1. MA Minor Allele, MAF co frequency of MA in patients with type 1 GD, MAF ca frequency of MA in patients with type 2/3 GD, P single p-value for logistic regression single-marker analysis, P L444P and P N370S P-values (uncorrected) for additional allelic and genotypic effect of GBA2 SNP on p.L444P and p.N370S association, respectively. P-values are in bold in case they reach the level of nominal significance (P < 0.05).