DisGeNET - a database of gene-disease associations

List of associated variants

Adenocarcinoma, C0001418

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
rs125555	MBD1	0.882	0.080	18	50273809	missense variant	G/A;C	snv	3.6E-05; 0.19		4
rs1347093	LOC105374690 ; MIR217HG	0.882	0.080	2	56019205	intron variant	G/T	snv		0.21	4
rs138895564	TERT	0.882	0.080	5	1271959	intron variant	C/T	snv		5.1E-03	4
rs1397529	GAB1	0.882	0.080	4	143471009	3 prime UTR variant	A/C;T	snv			4
rs139852726	LPCAT1	0.882	0.080	5	1462734	3 prime UTR variant	G/A;C	snv			4
rs199905033	IL6ST	0.882	0.080	5	55964205	missense variant	G/C	snv			4
rs2269577	XBP1 ; ZNRF3	0.882	0.120	22	28800769	non coding transcript exon variant	G/C	snv		0.40	4
rs3087399	REV1	0.882	0.120	2	99438696	missense variant	T/C	snv	0.13	0.17	4
rs4844880	HSD11B1-AS1 ; HSD11B1	0.882	0.240	1	209697571	intron variant	A/T	snv		0.70	4
rs765660823	DDR2	0.882	0.200	1	162778720	missense variant	A/C	snv	1.9E-04		4
rs8305	POLI	0.882	0.120	18	54294435	missense variant	G/A	snv	0.72	0.78	4
rs767808984	NKX2-1-AS1 ; SFTA3 ; NKX2-1	0.851	0.160	14	36520098	missense variant	C/G;T	snv	1.3E-05		9
rs689465	PTGS2 ; PACERR	0.851	0.200	1	186681714	upstream gene variant	T/C	snv		0.14	7
rs1164376164	ABCB1	0.851	0.200	7	87601024	5 prime UTR variant	A/G	snv			6
rs2168351	ST8SIA2	0.851	0.120	15	92440492	intron variant	A/G	snv		0.33	6
rs3784730	ST8SIA2	0.851	0.120	15	92443898	intron variant	A/G	snv		0.44	6
rs2073664	DKK4	0.851	0.120	8	42374268	synonymous variant	G/A	snv	0.14	0.25	5
rs3787728	LOC100133286 ; CBR1 ; SETD4	0.851	0.080	21	36071595	intron variant	T/C	snv		0.74	5
rs61748181	TERT	0.827	0.120	5	1294051	missense variant	C/T	snv	2.2E-02	2.2E-02	10
rs146795390	EGFR	0.827	0.080	7	55191776	missense variant	G/A	snv	8.0E-06	7.0E-06	8
rs1989969	VDR	0.827	0.120	12	47884227	intron variant	A/C;G;T	snv		0.60	8
rs2279574	DUSP6	0.827	0.120	12	89351700	missense variant	C/A;T	snv	0.52		8
rs577715207	TP63	0.827	0.160	3	189886413	missense variant	T/A;C	snv	4.0E-06; 4.0E-06	7.0E-06	8
rs12203582	IL17F	0.827	0.120	6	52240759	intron variant	G/A;T	snv			7
rs17757541	BCL2	0.827	0.240	18	63212453	intron variant	C/G;T	snv			7