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: rs1057520003
rs1057520003
TP53
0.695 0.320 17 7675996 missense variant T/G snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
dbSNP: rs786201057
rs786201057
TP53
0.677 0.400 17 7675995 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: rs747342068
rs747342068
TP53
0.695 0.440 17 7675218 missense variant T/C;G 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: rs1057519996
rs1057519996
TP53
0.701 0.360 17 7675217 splice acceptor variant T/A;C;G snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
dbSNP: rs866775781
rs866775781
TP53
0.716 0.440 17 7675216 splice acceptor variant C/A;G snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
dbSNP: rs1057519975
rs1057519975
TP53
0.649 0.480 17 7675209 missense variant A/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: rs587781991
rs587781991
TP53
0.724 0.240 17 7675208 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: rs786203071
rs786203071
TP53
0.776 0.240 17 7675181 missense variant T/A;G snv
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: rs28934874
rs28934874
TP53
0.695 0.480 17 7675161 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: rs138729528
rs138729528
TP53
0.677 0.480 17 7675089 missense variant G/A;C snv 1.6E-05
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
dbSNP: rs967461896
rs967461896
TP53
0.724 0.240 17 7675086 missense variant A/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: rs786202962
rs786202962
TP53
0.701 0.320 17 7675085 missense variant C/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: rs876658468
rs876658468
TP53
0.689 0.440 17 7674954 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: rs786201838
rs786201838
TP53
0.683 0.440 17 7674953 missense variant T/A;C;G snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
dbSNP: rs587780071
rs587780071
TP53
0.732 0.240 17 7674951 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: rs397516436
rs397516436
TP53
0.641 0.440 17 7674894 stop gained G/A;C snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
dbSNP: rs587778720
rs587778720
TP53
0.667 0.360 17 7674893 missense variant C/A;G;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: rs1057519992
rs1057519992
TP53
0.742 0.400 17 7674890 missense variant T/A;C;G snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
dbSNP: rs530941076
rs530941076
TP53
0.695 0.280 17 7674873 missense variant A/C;G;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: rs121912666
rs121912666
TP53
0.645 0.360 17 7674872 missense variant T/C;G snv 8.0E-06
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
dbSNP: rs864622237
rs864622237
TP53
0.716 0.320 17 7674263 missense variant A/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: rs587780073
rs587780073
TP53
0.708 0.400 17 7674262 missense variant T/C;G snv
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016
dbSNP: rs1057519981
rs1057519981
TP53
0.689 0.440 17 7674251 missense variant A/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: rs730882005
rs730882005
TP53
0.701 0.400 17 7674250 missense variant C/A;G;T snv 8.0E-06
CUI: C0279680
Disease: Transitional cell carcinoma of bladder
Transitional cell carcinoma of bladder 		0.700 1.000 1 2016 2016