DisGeNET - a database of gene-disease associations

List of associated variants

Malignant neoplasm of gastrointestinal tract, C0685938

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
rs1800872	IL19 ; IL10	0.495	0.840	1	206773062	5 prime UTR variant	T/G	snv		0.69	118
rs121913500	IDH1	0.529	0.600	2	208248388	missense variant	C/A;G;T	snv	4.0E-06		83
rs2292832	MIR149 ; GPC1 ; LOC100130449	0.605	0.640	2	240456086	non coding transcript exon variant	T/A;C	snv	0.59		46
rs6713088	ACYP2	0.763	0.200	2	54118332	intron variant	C/G	snv		0.48	9
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
rs771314938	UGT1A9 ; UGT1A10 ; UGT1A8 ; UGT1A7	0.807	0.160	2	233682328	frameshift variant	CG/-	del			8
rs879625015	UGT1A10 ; UGT1A9 ; UGT1A7 ; UGT1A8	0.807	0.160	2	233682328	frameshift variant	CG/A	delins			8
rs843711	ACYP2	0.790	0.200	2	54251980	intron variant	C/T	snv		0.41	7
rs17868323	UGT1A7 ; UGT1A10 ; UGT1A9 ; UGT1A8	0.925	0.160	2	233682324	missense variant	T/A;G	snv	0.59		2
rs17224367	MSH2	0.882	0.160	2	47429833	missense variant	C/G;T	snv	1.5E-03		1
rs63750006	MSH2	0.882	0.160	2	47429920	stop gained	C/A;G;T	snv	5.5E-04; 4.0E-06		1
rs63750070	MSH2	0.882	0.160	2	47410245	missense variant	T/C;G	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
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147
rs63750447	MLH1	0.716	0.200	3	37025749	missense variant	T/A	snv	2.7E-03	7.5E-04	17
rs4135385	CTNNB1	0.742	0.320	3	41237949	non coding transcript exon variant	A/G	snv		0.19	14
rs140693	MBD4	0.763	0.280	3	129436608	missense variant	C/T	snv	5.8E-02	3.1E-02	10
rs63750114	MLH1	0.827	0.160	3	37049015	stop gained	C/A;T	snv	4.9E-04		4
rs41526344	CNTN4	0.925	0.120	3	2943458	intron variant	G/A	snv		7.5E-02	1
rs587778964	MLH1	0.882	0.160	3	37048604	missense variant	A/C;T	snv			1
rs876661188	MLH1	1.000	0.080	3	37050573	missense variant	C/T	snv			1
rs4444903	EGF	0.630	0.360	4	109912954	5 prime UTR variant	A/G	snv		0.51	35
rs2910164	MIR3142HG ; MIR146A	0.447	0.880	5	160485411	mature miRNA variant	C/G	snv	0.71; 4.1E-06	0.70	193