DisGeNET - a database of gene-disease associations

List of associated variants

Malignant neoplasm of gastrointestinal tract, C0685938

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
rs876661188	MLH1	1.000	0.080	3	37050573	missense variant	C/T	snv			1
rs63750228	MSH2	1.000	0.080	2	47429926	missense variant	C/A;G	snv	4.0E-06		1
rs63751067	MSH2	1.000	0.080	2	47410244	frameshift variant	CTAGGACTGTGT/A	delins			1
rs41526344	CNTN4	0.925	0.120	3	2943458	intron variant	G/A	snv		7.5E-02	2
rs11479	SCO2 ; TYMP	0.925	0.080	22	50525807	stop gained	G/A;C;T	snv	0.13; 1.3E-05; 4.3E-06		2
rs17868323	UGT1A7 ; UGT1A10 ; UGT1A9 ; UGT1A8	0.925	0.160	2	233682324	missense variant	T/A;G	snv	0.59		2
rs4751240	DOCK1	0.882	0.120	10	127338145	intron variant	G/A	snv		9.0E-02	3
rs17224367	MSH2	0.882	0.160	2	47429833	missense variant	C/G;T	snv	1.5E-03		3
rs63750006	MSH2	0.882	0.160	2	47429920	stop gained	C/A;G;T	snv	5.5E-04; 4.0E-06		3
rs63750070	MSH2	0.882	0.160	2	47410245	missense variant	T/C;G	snv			3
rs587778964	MLH1	0.882	0.160	3	37048604	missense variant	A/C;T	snv			4
rs1131341	NQO1	0.925	0.160	16	69714966	missense variant	G/A;C	snv	3.2E-02	2.6E-02	4
rs63750114	MLH1	0.827	0.160	3	37049015	stop gained	C/A;T	snv	4.9E-04		5
rs843711	ACYP2	0.790	0.200	2	54251980	intron variant	C/T	snv		0.41	7
rs11896604	ACYP2	0.776	0.200	2	54252062	intron variant	C/A;G;T	snv			8
rs386656364	UGT1A10 ; UGT1A8 ; UGT1A9 ; UGT1A7	0.807	0.160	2	233682328	missense variant	CG/AA	mnv			8
rs879625015	UGT1A10 ; UGT1A9 ; UGT1A7 ; UGT1A8	0.807	0.160	2	233682328	frameshift variant	CG/A	delins			8
rs771314938	UGT1A9 ; UGT1A10 ; UGT1A8 ; UGT1A7	0.807	0.160	2	233682328	frameshift variant	CG/-	del			8
rs6713088	ACYP2	0.763	0.200	2	54118332	intron variant	C/G	snv		0.48	9
rs6898743	GHR	0.776	0.160	5	42602390	intron variant	C/G	snv		0.78	9
rs140693	MBD4	0.763	0.280	3	129436608	missense variant	C/T	snv	5.8E-02	3.1E-02	10
rs4135385	CTNNB1	0.742	0.320	3	41237949	non coding transcript exon variant	A/G	snv		0.19	14
rs63750447	MLH1	0.716	0.200	3	37025749	missense variant	T/A	snv	2.7E-03	7.5E-04	17
rs2043556	PRKG1 ; MIR605	0.716	0.440	10	51299646	non coding transcript exon variant	T/C	snv	0.25	0.24	17
rs2839698	MRPL23 ; MIR675 ; H19	0.662	0.520	11	1997623	non coding transcript exon variant	G/A	snv	0.41		25