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
rs718391	SELENON	1.000	0.080	1	25799343	upstream gene variant	C/G	snv		0.54	1
rs2072749	SELENON	1.000	0.080	1	25804530	intron variant	T/C	snv		0.23	1
rs11247735	SELENON	1.000	0.080	1	25804968	intron variant	G/A;C	snv			1
rs4659382	SELENON	1.000	0.080	1	25808435	intron variant	C/A;G	snv			1
rs7356	RPA2	1.000	0.080	1	27891589	3 prime UTR variant	T/A;C	snv			2
rs956304	SLC6A4 ; LOC105371720	1.000	0.080	17	30236544	upstream gene variant	T/C	snv		9.0E-03	1
rs25531	SLC6A4 ; LOC105371720	0.581	0.520	17	30237328	upstream gene variant	T/C	snv		0.18	72
rs17239025		1.000	0.080	13	30765768	downstream gene variant	G/C	snv		4.1E-02	1
rs187115	CD44	0.695	0.320	11	35154612	intron variant	T/C	snv		0.37	22
rs876658657	MLH1	0.677	0.280	3	37020356	missense variant	A/G	snv	4.0E-06		25
rs63750114	MLH1	0.827	0.160	3	37049015	stop gained	C/A;T	snv	4.9E-04		5
rs4994	ADRB3	0.578	0.640	8	37966280	missense variant	A/G	snv	0.11	9.2E-02	65
rs2269349	RPSA ; SNORA62	0.925	0.080	3	39411566	non coding transcript exon variant	C/T	snv		0.49	2
rs4803455	TGFB1	0.752	0.280	19	41345604	intron variant	C/A	snv		0.51	11
rs1800471	TGFB1	0.597	0.840	19	41352971	missense variant	C/G;T	snv	5.6E-02		48
rs1800469	B9D2 ; TGFB1	0.547	0.760	19	41354391	intron variant	A/G	snv		0.69	78
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs1799782	XRCC1	0.474	0.800	19	43553422	missense variant	G/A	snv	9.5E-02	7.0E-02	151
rs35352891	MUTYH	0.827	0.200	1	45331729	missense variant	G/A	snv	3.8E-04	1.1E-04	5
rs3219489	MUTYH	0.672	0.360	1	45331833	missense variant	C/A;G	snv	0.29	0.27	24
rs730881833	MUTYH	0.827	0.160	1	45332242	missense variant	C/A;T	snv	4.0E-06; 2.8E-05		6
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs759412116	ERCC2	0.581	0.640	19	45352210	missense variant	C/G;T	snv	4.0E-06; 6.0E-05		55
rs1799793	ERCC2	0.557	0.640	19	45364001	missense variant	C/A;T	snv	7.1E-06; 0.29		72
rs770507184	ERCC2	1.000	0.080	19	45370161	missense variant	C/G;T	snv	4.0E-06; 4.0E-06		1