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
rs14035	RAN	0.742	0.320	12	130876696	3 prime UTR variant	C/T	snv		0.33	15
rs1800925	IL13 ; TH2LCRR	0.627	0.560	5	132657117	non coding transcript exon variant	C/G;T	snv			37
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs2228000	XPC	0.585	0.560	3	14158387	missense variant	G/A	snv	0.24	0.21	53
rs17026425	IQCM	0.882	0.080	4	149751362	intron variant	G/A	snv		4.9E-02	4
rs9365723	SYNJ2	0.827	0.080	6	158014540	intron variant	A/C;G	snv		0.56	5
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
rs322351	DUSP1	0.925	0.160	5	172767870	intron variant	C/T	snv		0.37	3
rs4596	GTF2H1	1.000	0.080	11	18366581	3 prime UTR variant	G/C	snv		0.41	2
rs1799929	NAT2	0.776	0.240	8	18400484	synonymous variant	C/T	snv	0.36	0.36	11
rs11721827	TLR3	0.851	0.200	4	186069983	intron variant	A/C	snv		0.12	4
rs3775292	TLR3	0.851	0.080	4	186081871	non coding transcript exon variant	C/G	snv		0.82	5
rs20417	PACERR ; PTGS2	0.576	0.600	1	186681189	non coding transcript exon variant	C/G;T	snv			57
rs266729	ADIPOQ	0.637	0.560	3	186841685	upstream gene variant	C/A;G;T	snv			37
rs5743030	PMS1	1.000	0.080	2	189813819	intron variant	G/A	snv		0.11	1
rs5743100	PMS1	1.000	0.080	2	189841127	intron variant	G/T	snv		9.2E-02	1
rs2228545	BMPR2	1.000	0.080	2	202555989	missense variant	G/A	snv	2.4E-02	2.2E-02	1
rs1342387	ADIPOR1	0.776	0.120	1	202945228	intron variant	T/C	snv		0.53	12
rs12733285	ADIPOR1	0.776	0.120	1	202952912	intron variant	C/T	snv		0.26	12
rs4950928	CHI3L1	0.653	0.560	1	203186754	upstream gene variant	G/A;C;T	snv			33
rs1800872	IL19 ; IL10	0.495	0.840	1	206773062	5 prime UTR variant	T/G	snv		0.69	119
rs1136410	PARP1	0.559	0.760	1	226367601	missense variant	A/G	snv	0.21	0.15	70
rs2273626	HAUS4 ; MIR4707	0.925	0.120	14	22956973	mature miRNA variant	C/A	snv	0.58	0.41	2
rs712	KRAS	0.677	0.360	12	25209618	3 prime UTR variant	A/C	snv		0.46	24