DisGeNET - a database of gene-disease associations

List of associated variants

Adenocarcinoma of lung (disorder), C0152013

Source: ALL

Results per page

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
rs397516975	MIR4728 ; ERBB2	0.925	0.080	17	39724728	inframe insertion	-/ATACGTGATGGC	delins			2
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs1554350382	EGFR-AS1 ; EGFR	1.000	0.040	7	55181318	protein altering variant	-/GTC	ins			1
rs35201538		1.000	0.040	9	33422490	intergenic variant	-/T;TT	delins			1
rs754284524	SRFBP1 ; LOX	1.000	0.040	5	122074125	stop gained	-/TACATGCTAGATTCATTTTAACTCAATACTGCCATTCAATTCTAGCAAC	ins	4.0E-06		2
rs587776805	ERBB2 ; MIR4728	1.000	0.040	17	39724745	inframe insertion	-/TGTGGGCTC	delins			1
rs11375254	TP63	0.882	0.080	3	189625454	intergenic variant	A/-;AA;AAA;AAAA	delins			3
rs735482	CD3EAP ; ERCC1	0.742	0.160	19	45408744	missense variant	A/C	snv	0.21	0.20	16
rs8321	ZNRD1	0.742	0.320	6	30064745	3 prime UTR variant	A/C	snv	5.4E-02	5.9E-02	16
rs1057519939	PIK3CA	0.776	0.160	3	179203763	missense variant	A/C	snv			10
rs1057519987	TP53	0.776	0.280	17	7673810	missense variant	A/C	snv			10
rs1057519928	PIK3CA	0.807	0.200	3	179221147	missense variant	A/C	snv			8
rs1057519909	MAP2K1	0.790	0.240	15	66435116	missense variant	A/C	snv			7
rs2523987	TRIM31-AS1 ; TRIM31	0.827	0.280	6	30112216	intron variant	A/C	snv		9.2E-02	5
rs425366	CHL1	0.851	0.080	3	283727	intron variant	A/C	snv		0.56	4
rs6495314	CHRNB4 ; LOC112268142	0.925	0.080	15	78668187	intron variant	A/C	snv		0.35	4
rs11591710		0.882	0.160	10	103927874	intergenic variant	A/C	snv		0.16	3
rs1057519785	ALK	1.000	0.040	2	29222404	missense variant	A/C	snv			2
rs1546550	RASSF8	1.000	0.040	12	26069812	3 prime UTR variant	A/C	snv		0.76	1
rs186305118	ERN1	1.000	0.040	17	64055926	missense variant	A/C	snv	1.0E-02; 6.8E-06	1.0E-02	1
rs779318085	ALK	1.000	0.040	2	29193849	missense variant	A/C	snv	8.0E-06	4.2E-05	1
rs985192	ESR1	1.000	0.040	6	151962343	intron variant	A/C	snv		0.76	1
rs1057520002	TP53	0.695	0.360	17	7674242	missense variant	A/C;G	snv			20
rs1057519986	TP53	0.776	0.240	17	7673811	missense variant	A/C;G	snv			10
rs750664148	CASC11 ; MYC	0.851	0.200	8	127738434	missense variant	A/C;G	snv			5