Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1085307113
rs1085307113
MTOR
1.000 0.080 1 11114338 missense variant A/G;T snv
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		0.810 1.000 0 2015 2015
dbSNP: rs118203946
rs118203946
MTOR ; UBIAD1
1.000 0.080 1 11274060 missense variant G/C snv
CUI: C0271287
Disease: Schnyder crystalline corneal dystrophy
Schnyder crystalline corneal dystrophy 		0.810 1.000 0 2008 2008
dbSNP: rs118203951
rs118203951
MTOR ; UBIAD1
1.000 0.080 1 11274042 missense variant T/C snv
CUI: C0271287
Disease: Schnyder crystalline corneal dystrophy
Schnyder crystalline corneal dystrophy 		0.810 1.000 0 2009 2009
dbSNP: rs863225264
rs863225264
MTOR
0.827 0.240 1 11130747 missense variant C/T snv
CUI: C4225259
Disease: SMITH-KINGSMORE SYNDROME
SMITH-KINGSMORE SYNDROME 		0.810 1.000 0 2017 2017
dbSNP: rs587777893
rs587777893
MTOR
0.658 0.240 1 11128107 missense variant G/A;T snv
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		0.800 1.000 4 2015 2016
dbSNP: rs587777894
rs587777894
MTOR
0.776 0.240 1 11124516 missense variant G/A;T snv
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		0.800 1.000 4 2015 2016
dbSNP: rs869312666
rs869312666
MTOR
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
MTOR
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: rs1057519779
rs1057519779
MTOR
0.925 0.200 1 11157242 missense variant A/G snv
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		0.800 0
dbSNP: rs1085307114
rs1085307114
MTOR
1.000 0.080 1 11157255 missense variant A/C snv
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		0.800 0
dbSNP: rs118203945
rs118203945
MTOR ; UBIAD1
0.882 0.280 1 11273836 missense variant A/G snv
CUI: C0271287
Disease: Schnyder crystalline corneal dystrophy
Schnyder crystalline corneal dystrophy 		0.800 0
dbSNP: rs118203947
rs118203947
MTOR ; UBIAD1
1.000 0.080 1 11273886 missense variant A/G snv
CUI: C0271287
Disease: Schnyder crystalline corneal dystrophy
Schnyder crystalline corneal dystrophy 		0.800 0
dbSNP: rs118203948
rs118203948
MTOR ; UBIAD1
1.000 0.080 1 11274055 missense variant C/T snv
CUI: C0271287
Disease: Schnyder crystalline corneal dystrophy
Schnyder crystalline corneal dystrophy 		0.800 0
dbSNP: rs118203950
rs118203950
MTOR ; UBIAD1
1.000 0.080 1 11273866 missense variant A/G snv
CUI: C0271287
Disease: Schnyder crystalline corneal dystrophy
Schnyder crystalline corneal dystrophy 		0.800 0
dbSNP: rs869312671
rs869312671
MTOR ; MTOR-AS1
0.882 0.160 1 11144735 missense variant C/T snv
CUI: C4225259
Disease: SMITH-KINGSMORE SYNDROME
SMITH-KINGSMORE SYNDROME 		0.800 0
dbSNP: rs1057519914
rs1057519914
MTOR
0.851 0.240 1 11157174 missense variant A/G snv
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		0.700 1.000 4 2015 2016
dbSNP: rs587777895
rs587777895
MTOR
1.000 0.080 1 11139308 missense variant C/T snv 8.2E-06 2.1E-05
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		0.700 1.000 4 2015 2016
dbSNP: rs369088781
rs369088781
MTOR
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: rs913197212
rs913197212
MTOR
1.000 0.080 1 11238533 missense variant C/T snv 2.8E-05 1.4E-05
CUI: C1846385
Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR
FOCAL CORTICAL DYSPLASIA OF TAYLOR 		0.700 0