DisGeNET - a database of gene-disease associations

List of shared variants

Adenocarcinoma, C0001418

Disease: Squamous cell carcinoma

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
rs3746444	MIR499A ; MIR499B ; MYH7B ; LOC107985393	0.514	0.760	20	34990448	mature miRNA variant	A/G	snv	0.20	0.19	105
rs876658657	MLH1	0.677	0.280	3	37020356	missense variant	A/G	snv	4.0E-06		25
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
rs833061	VEGFA	0.605	0.600	6	43769749	upstream gene variant	C/G;T	snv			42
rs3660	KRT86 ; KRT81	0.882	0.160	12	52286153	3 prime UTR variant	C/G	snv		0.51	6
rs8305	POLI	0.882	0.120	18	54294435	missense variant	G/A	snv	0.72	0.78	4
rs28929495	EGFR	0.807	0.120	7	55174014	missense variant	G/A;C;T	snv			9
rs121913465	EGFR ; EGFR-AS1	0.763	0.160	7	55181312	missense variant	G/T	snv			11
rs397517108	EGFR ; EGFR-AS1	0.790	0.120	7	55181312	missense variant	GC/TT	mnv			9
rs121434569	EGFR-AS1 ; EGFR	0.581	0.520	7	55181378	missense variant	C/T	snv	2.8E-05	5.6E-05	70
rs1057519847	EGFR	0.570	0.560	7	55191821	missense variant	CT/AG	mnv			72
rs1057519848	EGFR	0.570	0.560	7	55191822	missense variant	TG/GT	mnv			72
rs121434568	EGFR	0.568	0.560	7	55191822	missense variant	T/A;G	snv			73
rs1048943	CYP1A1	0.533	0.720	15	74720644	missense variant	T/A;C;G	snv	0.11	5.9E-02	88
rs587782289	TP53	0.752	0.240	17	7674257	missense variant	A/C;G;T	snv			15
rs762846821	TP53	0.614	0.320	17	7675151	missense variant	C/A;T	snv	8.0E-06		57
rs754332870	TP53	0.790	0.240	17	7676240	missense variant	C/G	snv	4.0E-06		9
rs7309332		1.000	0.040	12	7938243	upstream gene variant	T/C	snv		0.59	3
rs1770474	TNKS2	0.925	0.080	10	91833770	intron variant	G/A;T	snv			3
rs1340420	TNKS2	0.925	0.080	10	91857549	intron variant	A/G	snv	0.71	0.70	3
rs2274223	PLCE1	0.620	0.400	10	94306584	missense variant	A/G	snv	0.28	0.31	40
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147
rs3087399	REV1	0.882	0.120	2	99438696	missense variant	T/C	snv	0.13	0.17	4
rs3087386	REV1	0.790	0.160	2	99439044	missense variant	A/G	snv	0.58	0.61	8