DisGeNET - a database of gene-disease associations

List of associated variants

Colorectal Carcinoma, C0009402

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
rs199474826	COX2 ; ATP8 ; COX3 ; ATP6	1.000	0.080	MT	8009	missense variant	G/A	snv			1
rs207459995	CYTB ; ND6	1.000	0.080	MT	14985	missense variant	G/A	snv			1
rs207459996	ND6 ; CYTB	1.000	0.080	MT	15572	missense variant	T/C	snv			1
rs267606884	COX3 ; ATP8 ; COX1 ; ATP6 ; COX2	1.000	0.080	MT	7275	missense variant	T/C	snv			1
rs267606892	ND5 ; ND4 ; ND4L ; ND3	1.000	0.080	MT	10563	missense variant	T/C	snv			1
rs281865417	COX2 ; COX1	1.000	0.080	MT	6277	missense variant	G/A	snv			1
rs3761548	FOXP3	0.620	0.680	X	49261784	intron variant	G/A;T	snv			42
rs2732875	SHROOM2	0.790	0.080	X	9795858	intron variant	C/G;T	snv			9
rs5934683	GPR143	0.790	0.080	X	9783434	intron variant	T/C	snv		0.50	9
rs1088967		0.851	0.080	X	127010099	intergenic variant	T/A;C	snv			4
rs17276588	MIRLET7F2 ; MIR98 ; HUWE1	0.882	0.120	X	53557457	intron variant	G/A	snv	9.0E-02	4.2E-02	4
rs199469669	MED12	0.925	0.080	X	71119403	missense variant	G/A;C;T	snv			2
rs1257734702	RNF113A ; NDUFA1	1.000	0.080	X	119873358	missense variant	C/T	snv		9.6E-06	1
rs12689028	STS	1.000	0.080	X	7718359	intron variant	T/C	snv		0.15	1
rs1371889606	LAS1L	1.000	0.080	X	65531363	missense variant	G/A	snv	5.5E-06		1
rs1372839121	DUSP21	1.000	0.080	X	44844631	missense variant	C/T	snv		1.9E-05	1
rs1449722258	DLG3	1.000	0.080	X	70445319	missense variant	G/A	snv	9.7E-06	9.3E-06	1
rs1451414636	PCDH11X	1.000	0.080	X	91835629	missense variant	A/G	snv			1
rs749477993	NLGN4X	1.000	0.080	X	5909225	missense variant	C/T	snv	1.6E-05	9.5E-06	1
rs750292974	TBX22	1.000	0.080	X	80028046	missense variant	G/A	snv	1.1E-05	9.5E-06	1
rs753267653	ACSL4	1.000	0.080	X	109682851	missense variant	G/A	snv	2.7E-05	9.5E-06	1
rs771705122	CNKSR2	1.000	0.080	X	21426569	missense variant	G/A	snv	5.6E-06	9.5E-06	1
rs912956	SPIN3	1.000	0.080	X	56983705	intron variant	C/A;T	snv			1
rs4680	COMT ; MIR4761	0.442	0.920	22	19963748	missense variant	G/A	snv	0.46	0.44	249
rs17879961	CHEK2	0.597	0.480	22	28725099	missense variant	A/C;G	snv	4.1E-03		53