DisGeNET - a database of gene-disease associations

List of associated variants

Neoplasms, C0027651

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	AF GENOME	Num. diseases
rs1163944538	TMEM94	0.641	0.560	17	75494905	frameshift variant	-/A	delins	4.0E-06		73
rs1114167628	PTEN	0.925	0.080	10	87961033	stop gained	-/ATATCTAG	delins			5
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs886040340	BRCA2	0.882	0.080	13	32319111	frameshift variant	-/C	delins			4
rs1799732	DRD2 ; LOC105369501	0.790	0.160	11	113475529	intron variant	-/G	delins			11
rs1205454520	KLLN ; PTEN	0.763	0.120	10	87864059	5 prime UTR variant	-/G	delins		7.2E-06	10
rs1565486028	ATM			11	108307917	frameshift variant	-/G	delins			1
rs878853941	PTEN	1.000	0.080	10	87952168	frameshift variant	-/T	delins			2
rs754284524	SRFBP1 ; LOX	1.000	0.040	5	122074125	stop gained	-/TACATGCTAGATTCATTTTAACTCAATACTGCCATTCAATTCTAGCAAC	ins	4.0E-06		2
rs3783553	IL1A	0.667	0.480	2	112774138	3 prime UTR variant	-/TGAA	delins			26
rs777875898	PTGR1	1.000	0.120	9	111594264	frameshift variant	A/-	del	4.0E-06	7.0E-06	2
rs886041332	PTEN			10	87960962	frameshift variant	A/-	del			2
rs1565400045	ATM			11	108259050	frameshift variant	A/-	del			1
rs1064793929	TP53	0.882	0.280	17	7675167	frameshift variant	A/-;AA	delins			5
rs144848	BRCA2	0.653	0.440	13	32332592	missense variant	A/C	snv	0.28	0.23	29
rs4646	MIR4713HG ; CYP19A1	0.716	0.360	15	51210647	3 prime UTR variant	A/C	snv	0.67	0.70	16
rs735482	CD3EAP ; ERCC1	0.742	0.160	19	45408744	missense variant	A/C	snv	0.21	0.20	16
rs4968451	BRIP1	0.732	0.160	17	61849946	intron variant	A/C	snv		0.15	13
rs1057519697	ALK	0.776	0.120	2	29220830	missense variant	A/C	snv			12
rs4652	LGALS3	0.752	0.200	14	55138318	missense variant	A/C	snv	4.1E-06; 0.45	0.57	12
rs1566734	PTPRJ	0.807	0.120	11	48123823	missense variant	A/C	snv	0.17	0.15	10
rs627928	RNASEL	0.790	0.080	1	182582202	missense variant	A/C	snv	0.54	0.49	10
rs1990172	MACC1	0.827	0.120	7	20164512	intron variant	A/C	snv		0.27	6
rs386352352	PRKACA	0.851	0.080	19	14097604	missense variant	A/C	snv			6
rs4796030	LIG3	0.827	0.120	17	35003131	3 prime UTR variant	A/C	snv		0.66	6