MTOR, mechanistic target of rapamycin kinase, 2475

N. diseases: 960; N. variants: 48
Disease: SMITH-KINGSMORE SYNDROME ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs863225264
rs863225264 		0.827 0.240 1 11130747 missense variant C/T snv
CUI: C4225259
Disease: SMITH-KINGSMORE SYNDROME
SMITH-KINGSMORE SYNDROME 		0.810 1.000 1 2017 2017
dbSNP: rs869312666
rs869312666 		0.925 0.160 1 11129789 missense variant A/C snv
CUI: C4225259
Disease: SMITH-KINGSMORE SYNDROME
SMITH-KINGSMORE SYNDROME 		0.800 1.000 3 2015 2016
dbSNP: rs878855328
rs878855328 		0.882 0.120 1 11117039 missense variant C/T snv
CUI: C4225259
Disease: SMITH-KINGSMORE SYNDROME
SMITH-KINGSMORE SYNDROME 		0.800 1.000 3 2015 2016
dbSNP: rs869312671
rs869312671 		0.882 0.160 1 11144735 missense variant C/T snv
CUI: C4225259
Disease: SMITH-KINGSMORE SYNDROME
SMITH-KINGSMORE SYNDROME 		0.800 0
dbSNP: rs369088781
rs369088781 		1.000 1 11130648 missense variant C/A;T snv 8.1E-06; 1.6E-05
CUI: C4225259
Disease: SMITH-KINGSMORE SYNDROME
SMITH-KINGSMORE SYNDROME 		0.700 1.000 3 2015 2016
dbSNP: rs1057519915
rs1057519915 		0.851 0.160 1 11109318 missense variant A/C snv
CUI: C4225259
Disease: SMITH-KINGSMORE SYNDROME
SMITH-KINGSMORE SYNDROME 		0.700 0
dbSNP: rs786205165
rs786205165 		0.882 0.120 1 11157173 missense variant C/A;T snv
CUI: C4225259
Disease: SMITH-KINGSMORE SYNDROME
SMITH-KINGSMORE SYNDROME 		0.700 0