DisGeNET - a database of gene-disease associations

List of shared variants

Adenoma of large intestine, C1302401

Disease: Malignant neoplasm of lung

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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs25487	XRCC1	0.441	0.800	19	43551574	missense variant	T/C	snv	0.68	0.71	205
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs1799782	XRCC1	0.474	0.800	19	43553422	missense variant	G/A	snv	9.5E-02	7.0E-02	151
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147
rs1805087	MTR	0.496	0.800	1	236885200	missense variant	A/G	snv	0.20	0.21	135
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs671	ALDH2	0.529	0.840	12	111803962	missense variant	G/A	snv	1.9E-02	5.8E-03	116
rs861539	KLC1 ; XRCC3	0.519	0.680	14	103699416	missense variant	G/A	snv	0.29	0.30	104
rs6983267	PCAT1 ; CCAT2 ; CASC8 ; POU5F1B	0.578	0.440	8	127401060	non coding transcript exon variant	G/T	snv		0.37	62
rs1800566	NQO1	0.576	0.680	16	69711242	missense variant	G/A	snv	0.25	0.21	59
rs20417	PACERR ; PTGS2	0.576	0.600	1	186681189	non coding transcript exon variant	C/G;T	snv			57
rs1051740	EPHX1	0.592	0.760	1	225831932	missense variant	T/C	snv	0.32	0.27	56
rs5275	PTGS2	0.583	0.560	1	186673926	3 prime UTR variant	A/G;T	snv			55
rs1138272	GSTP1	0.611	0.600	11	67586108	missense variant	C/T	snv	5.9E-02	5.5E-02	42
rs2234922	EPHX1	0.630	0.440	1	225838705	missense variant	A/G;T	snv	0.19; 2.8E-05		42
rs1258159645	NQO1	0.630	0.600	16	69711128	missense variant	G/A	snv		7.0E-06	37
rs10936599	MYNN	0.637	0.600	3	169774313	synonymous variant	C/T	snv	0.29	0.21	32
rs10505477	CASC8 ; PCAT1 ; POU5F1B	0.658	0.400	8	127395198	intron variant	A/G	snv		0.40	31
rs9282861	SULT1A1	0.658	0.440	16	28606193	missense variant	C/T	snv			31
rs1042028	SULT1A1	0.658	0.440	16	28606193	missense variant	C/T	snv	0.22	0.30	30