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: rs1057519780
rs1057519780
MTOR
1.000 0.120 1 11127800 missense variant C/T snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2014 2014
dbSNP: rs1057519949
rs1057519949
RHEB
0.851 0.120 7 151490964 missense variant A/T snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
dbSNP: rs587777900
rs587777900
MTOR
1.000 0.120 1 11114363 missense variant C/T snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2014 2014
dbSNP: rs1057519732
rs1057519732
MAP2K1
0.827 0.160 15 66436824 missense variant C/A;T snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
dbSNP: rs1057519862
rs1057519862
ERBB2
0.851 0.160 17 39723405 missense variant G/A snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
dbSNP: rs1057519891
rs1057519891
ERBB3
0.851 0.160 12 56088557 missense variant G/A;T snv 4.0E-06
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
dbSNP: rs1057519892
rs1057519892
ERBB3
0.851 0.160 12 56088558 missense variant A/T snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
dbSNP: rs1057519893
rs1057519893
ERBB3
0.790 0.160 12 56085070 missense variant G/A;T snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
dbSNP: rs1057519911
rs1057519911
MAPK1
0.776 0.160 22 21772875 missense variant C/T snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
dbSNP: rs1057519920
rs1057519920
NFE2L2
0.790 0.160 2 177234232 missense variant C/A;G;T snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
dbSNP: rs1057519931
rs1057519931
PIK3CA
0.827 0.160 3 179199141 missense variant G/C snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
dbSNP: rs121913468
rs121913468
ERBB2
0.827 0.160 17 39724008 missense variant G/A;C;T snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
dbSNP: rs759610249
rs759610249
FBXW7
0.790 0.160 4 152323032 missense variant C/T snv 8.0E-06 7.0E-06
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
dbSNP: rs786201419
rs786201419
TP53
0.790 0.160 17 7675180 missense variant C/A;T snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
dbSNP: rs1057519816
rs1057519816
ERBB2
0.763 0.200 17 39711955 missense variant C/A;T snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
dbSNP: rs1057519889
rs1057519889
EP300
0.807 0.200 22 41169525 missense variant G/A;T snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
dbSNP: rs1057519890
rs1057519890
ERBB2
0.807 0.200 17 39723966 missense variant T/A snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
dbSNP: rs1057519922
rs1057519922
NFE2L2
0.790 0.200 2 177234082 missense variant C/G;T snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
dbSNP: rs1057519923
rs1057519923
NFE2L2
0.807 0.200 2 177234081 missense variant T/A snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
dbSNP: rs1057519924
rs1057519924
NFE2L2
0.807 0.200 2 177234080 missense variant C/A snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
dbSNP: rs1057519926
rs1057519926
PIK3CA
0.776 0.200 3 179210293 missense variant A/T snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
dbSNP: rs1057519928
rs1057519928
PIK3CA
0.807 0.200 3 179221147 missense variant A/C snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
dbSNP: rs1057519936
rs1057519936
PIK3CA
0.776 0.200 3 179234284 missense variant A/G;T snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
dbSNP: rs1057519937
rs1057519937
PIK3CA
0.776 0.200 3 179234285 missense variant T/C snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
dbSNP: rs1057519940
rs1057519940
PIK3CA
0.752 0.200 3 179218308 missense variant G/T snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016