DisGeNET - a database of gene-disease associations

List of associated variants

Rectal Carcinoma, C0007113

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
rs4950928	CHI3L1	0.653	0.560	1	203186754	upstream gene variant	G/A;C;T	snv			33
rs3802842	COLCA2 ; COLCA1	0.695	0.280	11	111300984	intron variant	C/A	snv		0.71	25
rs1800947	CRP	0.683	0.440	1	159713648	splice region variant	C/A;G;T	snv	4.4E-05; 5.1E-02; 4.0E-06		28
rs1048943	CYP1A1	0.533	0.720	15	74720644	missense variant	T/A;C;G	snv	0.11	5.9E-02	88
rs4646903	CYP1A1	0.630	0.640	15	74719300	downstream gene variant	A/G;T	snv		0.18	36
rs322351	DUSP1	0.925	0.160	5	172767870	intron variant	C/T	snv		0.37	3
rs2227983	EGFR	0.658	0.520	7	55161562	missense variant	G/A;C;T	snv	0.29		31
rs750713244	EGFR	0.925	0.200	7	55157753	missense variant	A/G	snv	8.0E-06		4
rs1799793	ERCC2	0.557	0.640	19	45364001	missense variant	C/A;T	snv	7.1E-06; 0.29		72
rs759412116	ERCC2	0.581	0.640	19	45352210	missense variant	C/G;T	snv	4.0E-06; 6.0E-05		55
rs770507184	ERCC2	1.000	0.080	19	45370161	missense variant	C/G;T	snv	4.0E-06; 4.0E-06		1
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs4596	GTF2H1	1.000	0.080	11	18366581	3 prime UTR variant	G/C	snv		0.41	2
rs2273626	HAUS4 ; MIR4707	0.925	0.120	14	22956973	mature miRNA variant	C/A	snv	0.58	0.41	2
rs1800925	IL13 ; TH2LCRR	0.627	0.560	5	132657117	non coding transcript exon variant	C/G;T	snv			37
rs2275913	IL17A	0.514	0.760	6	52186235	upstream gene variant	G/A	snv		0.28	105
rs3748067	IL17A	0.672	0.320	6	52190541	3 prime UTR variant	C/T	snv		6.2E-02	21
rs7747909	IL17A	0.790	0.320	6	52189451	3 prime UTR variant	G/A	snv		0.18	7
rs10484879	IL17A	0.827	0.160	6	52187159	intron variant	G/A;T	snv			5
rs3804513	IL17A	0.851	0.080	6	52188399	intron variant	A/T	snv		2.4E-02	4
rs763780	IL17F	0.531	0.720	6	52236941	missense variant	T/C	snv	6.7E-02	6.6E-02	87
rs1800872	IL19 ; IL10	0.495	0.840	1	206773062	5 prime UTR variant	T/G	snv		0.69	119
rs1143623	IL1B	0.677	0.440	2	112838252	upstream gene variant	C/G	snv		0.24	29
rs10889675	IL23R	1.000	0.080	1	67256533	intron variant	C/A	snv		0.11	2
rs7542081	IL23R	1.000	0.080	1	67237570	intron variant	C/A	snv		0.56	2