DisGeNET - a database of gene-disease associations

List of associated variants

Mammary Neoplasms, C1458155

Source: BEFREE ×

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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
rs104894229	LRRC56 ; HRAS	0.564	0.600	11	534289	missense variant	C/A;G;T	snv			23
rs886039484	TP53	0.641	0.440	17	7674888	missense variant	T/C;G	snv			23
rs104894228	LRRC56 ; HRAS	0.605	0.560	11	534286	missense variant	C/A;G;T	snv			22
rs121913273	PIK3CA	0.605	0.440	3	179218294	missense variant	G/A;C	snv			22
rs1057519975	TP53	0.649	0.480	17	7675209	missense variant	A/C;G;T	snv			21
rs121912651	TP53	0.605	0.680	17	7674221	missense variant	G/A;C	snv	4.0E-06		21
rs11540652	TP53	0.592	0.640	17	7674220	missense variant	C/A;G;T	snv	1.2E-05		20
rs121913343	TP53	0.611	0.520	17	7673803	missense variant	G/A;C;T	snv	1.2E-05		20
rs138213197	HOXB13	0.701	0.240	17	48728343	missense variant	C/T	snv	1.8E-03	1.6E-03	19
rs1273593548	PIK3CG	0.716	0.160	7	106867593	missense variant	T/G	snv	8.4E-06		19
rs121913233	HRAS ; LRRC56	0.627	0.520	11	533874	missense variant	T/A;C;G	snv			18
rs760043106	TP53	0.645	0.440	17	7674947	missense variant	A/C;G;T	snv			16
rs121913495	GNAS	0.672	0.400	20	58909366	missense variant	G/A;T	snv			15
rs56391007	MET	0.752	0.200	7	116771936	missense variant	C/T	snv	7.9E-03	9.0E-03	15
rs28934575	TP53	0.641	0.400	17	7674230	missense variant	C/A;G;T	snv			14
rs121912666	TP53	0.645	0.360	17	7674872	missense variant	T/C;G	snv	8.0E-06		13
rs228648	UTS2	0.776	0.360	1	7853370	missense variant	G/A	snv	0.51	0.52	13
rs1302103336	CHEK1	0.776	0.120	11	125637491	missense variant	T/C	snv	8.1E-06		12
rs121909218	PTEN	0.672	0.360	10	87933145	missense variant	G/A	snv			12
rs587781858	TP53	0.742	0.360	17	7669671	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06		12
rs10941679		0.763	0.120	5	44706396	intergenic variant	A/G	snv		0.25	11
rs28997576	BARD1	0.776	0.160	2	214752454	missense variant	C/G;T	snv	1.5E-02		11
rs121912656	TP53	0.662	0.560	17	7674229	missense variant	C/A;G;T	snv	4.0E-06; 4.0E-06		11
rs28897672	BRCA1	0.732	0.280	17	43106487	missense variant	A/C;G;T	snv	3.2E-05		10
rs28933406	LRRC56 ; HRAS	0.667	0.480	11	533875	missense variant	G/C;T	snv			10