DisGeNET - a database of gene-disease associations

List of shared variants

Transitional cell carcinoma of bladder, C0279680

Disease: Uterine Carcinosarcoma

Source: CLINVAR ×

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Gene

Disease

Variant

Source

DSI _v

DPI _v

pLI

Consequence

AF_EXOME

AF_GENOME

Variant	Gene	DSI _v	DPI _v	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs1057519891	ERBB3	0.851	0.160	12	56088557	missense variant	G/A;T	snv	4.0E-06		5
rs1057519892	ERBB3	0.851	0.160	12	56088558	missense variant	A/T	snv			5
rs1057519893	ERBB3	0.790	0.160	12	56085070	missense variant	G/A;T	snv			8
rs1057519896	FBXW7	0.742	0.320	4	152326136	missense variant	C/A;T	snv			12
rs149680468	FBXW7	0.742	0.320	4	152326137	missense variant	G/A;C;T	snv			12
rs747241612	FBXW7	0.752	0.240	4	152326215	missense variant	G/C	snv	4.0E-06		12
rs759610249	FBXW7	0.790	0.160	4	152323032	missense variant	C/T	snv	8.0E-06	7.0E-06	8
rs866987936	FBXW7	0.752	0.240	4	152326214	missense variant	C/A;G;T	snv			12
rs104894230	HRAS ; LRRC56	0.564	0.600	11	534288	missense variant	C/A;G;T	snv			36
rs104894229	LRRC56 ; HRAS	0.564	0.600	11	534289	missense variant	C/A;G;T	snv			52
rs104886003	PIK3CA	0.562	0.440	3	179218303	missense variant	G/A;C	snv	4.0E-06		34
rs1057519931	PIK3CA	0.827	0.160	3	179199141	missense variant	G/C	snv			6
rs1057519932	PIK3CA	0.683	0.320	3	179234298	missense variant	T/G	snv			22
rs1057519940	PIK3CA	0.752	0.200	3	179218308	missense variant	G/T	snv			13
rs121913274	PIK3CA	0.645	0.320	3	179218304	missense variant	A/C;G;T	snv			28
rs121913275	PIK3CA	0.672	0.320	3	179218305	missense variant	G/A;C;T	snv	4.0E-06		25
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		45
rs121913281	PIK3CA	0.623	0.520	3	179234296	missense variant	C/T	snv			37
rs121913286	PIK3CA	0.677	0.280	3	179218306	missense variant	C/A;G	snv			20
rs121913287	PIK3CA	0.752	0.400	3	179199088	missense variant	G/A	snv			11
rs397517201	PIK3CA	0.732	0.240	3	179218307	missense variant	A/C;G;T	snv			14
rs1057519981	TP53	0.689	0.440	17	7674251	missense variant	A/C;G;T	snv			20
rs1057519996	TP53	0.701	0.360	17	7675217	splice acceptor variant	T/A;C;G	snv			16
rs1057520002	TP53	0.695	0.360	17	7674242	missense variant	A/C;G	snv			20
rs11540652	TP53	0.592	0.640	17	7674220	missense variant	C/A;G;T	snv	1.2E-05		42