TSC2, TSC complex subunit 2, 7249

N. diseases: 410; N. variants: 317
Disease: Lymphangioleiomyomatosis ×
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: rs28934872
rs28934872 		0.851 0.200 16 2070571 missense variant G/A snv
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.800 1.000 2 2000 2002
dbSNP: rs1131691965
rs1131691965 		0.882 0.200 16 2074394 splice region variant G/C snv
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1567387207
rs1567387207 		0.882 0.200 16 2050487 splice donor variant G/A snv
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs1567437155
rs1567437155 		0.882 0.200 16 2064286 frameshift variant C/- del
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs45469298
rs45469298 		0.851 0.200 16 2070570 missense variant C/G;T snv
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs45517148
rs45517148 		1.000 0.120 16 2060790 stop gained G/A;C;T snv 1.6E-05; 4.0E-06
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs45517179
rs45517179 		0.882 0.200 16 2064341 stop gained C/G;T snv
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs45517222
rs45517222 		0.882 0.200 16 2072879 stop gained C/T snv
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs45517395
rs45517395 		0.882 0.200 16 2088117 missense variant G/A;C snv 4.0E-06
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0
dbSNP: rs45517412
rs45517412 		0.882 0.200 16 2088293 missense variant C/G;T snv
CUI: C0751674
Disease: Lymphangioleiomyomatosis
Lymphangioleiomyomatosis 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.700 0