DisGeNET - a database of gene-disease associations

List of shared variants

Breast Carcinoma, C0678222

Disease: Liver carcinoma

Source: ALL

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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	Num. diseases
rs10053538	HAVCR2	0.807	0.160	5	157110499	intron variant	C/A;T	snv		7
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67	242
rs1043210477	GPX1	0.701	0.520	3	49358250	missense variant	G/A	snv		19
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50	214
rs104886003	PIK3CA	0.562	0.440	3	179218303	missense variant	G/A;C	snv	4.0E-06	71
rs1057519975	TP53	0.649	0.480	17	7675209	missense variant	A/C;G;T	snv		34
rs1057519981	TP53	0.689	0.440	17	7674251	missense variant	A/C;G;T	snv		22
rs1057520006	TP53	0.752	0.240	17	7673799	missense variant	A/C;G;T	snv		14
rs10719	DROSHA	0.677	0.680	5	31401340	3 prime UTR variant	A/G;T	snv	0.69	24
rs10932029	ICOS ; LOC101927840	0.827	0.200	2	203937045	intron variant	T/A;C	snv		5
rs1130409	APEX1	0.555	0.720	14	20456995	missense variant	T/A;C;G	snv	4.0E-06; 4.0E-06; 0.42	72
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins		214
rs11540652	TP53	0.592	0.640	17	7674220	missense variant	C/A;G;T	snv	1.2E-05	57
rs1214285376	XRCC1	0.776	0.200	19	43543490	missense variant	G/T	snv	4.0E-06	8
rs121434592	AKT1	0.595	0.640	14	104780214	missense variant	C/T	snv	4.0E-06	54
rs121912654	TP53	0.683	0.400	17	7675143	missense variant	C/A;T	snv	4.0E-05	21
rs121913273	PIK3CA	0.605	0.440	3	179218294	missense variant	G/A;C	snv		44
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06	101
rs121913343	TP53	0.611	0.520	17	7673803	missense variant	G/A;C;T	snv	1.2E-05	44
rs121913500	IDH1	0.529	0.600	2	208248388	missense variant	C/A;G;T	snv	4.0E-06	96
rs1288373809	TP53	0.882	0.120	17	7673255	synonymous variant	G/A	snv	5.3E-06	5
rs1302103336	CHEK1	0.776	0.120	11	125637491	missense variant	T/C	snv	8.1E-06	12
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32	134
rs13347	CD44	0.763	0.320	11	35231725	3 prime UTR variant	C/A;T	snv		12
rs1353702185	MDM2	0.550	0.720	12	68839311	missense variant	C/G	snv	4.0E-06	79