Source: CLINVAR

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: rs1057519914
rs1057519914
MTOR
0.851 0.240 1 11157174 missense variant A/G snv
CUI: C0017636
Disease: Glioblastoma
Glioblastoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519914
rs1057519914
MTOR
0.851 0.240 1 11157174 missense variant A/G snv
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.700 1.000 1 2016 2016
dbSNP: rs1057519914
rs1057519914
MTOR
0.851 0.240 1 11157174 missense variant A/G snv
CUI: C1458155
Disease: Mammary Neoplasms
Mammary Neoplasms 		0.700 1.000 1 2016 2016
dbSNP: rs1057519914
rs1057519914
MTOR
0.851 0.240 1 11157174 missense variant A/G snv
CUI: C0431391
Disease: Hemimegalencephaly
Hemimegalencephaly 		0.700 0