DisGeNET - a database of gene-disease associations

List of associated variants

Squamous cell carcinoma, C0007137

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
rs7250795	ZNF763 ; ZNF69	1.000	0.040	19	11978928	missense variant	C/G;T	snv	4.0E-06; 1.7E-02		1
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
rs2228000	XPC	0.585	0.560	3	14158387	missense variant	G/A	snv	0.24	0.21	53
rs2229090	XPC	0.827	0.160	3	14145845	3 prime UTR variant	G/C	snv	0.25	0.22	6
rs1800975	XPA	0.701	0.360	9	97697296	5 prime UTR variant	T/C;G	snv	0.63; 4.5E-06; 4.5E-06		19
rs2239815	XBP1	0.925	0.080	22	28796682	non coding transcript exon variant	T/C	snv		0.44	3
rs2071230	WTAPP1 ; MMP1	0.882	0.080	11	102790228	3 prime UTR variant	A/G	snv		0.15	3
rs1533767	WNT11	0.851	0.120	11	76194756	splice region variant	G/A	snv	0.27	0.23	5
rs833061	VEGFA	0.605	0.600	6	43769749	upstream gene variant	C/G;T	snv			42
rs749140677	VDR	0.752	0.240	12	47857185	missense variant	G/A	snv	8.0E-06		13
rs2273953	TP73	0.851	0.120	1	3682336	5 prime UTR variant	G/A;T	snv	0.20; 3.3E-04		5
rs577715207	TP63	0.827	0.160	3	189886413	missense variant	T/A;C	snv	4.0E-06; 4.0E-06	7.0E-06	8
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
rs762846821	TP53	0.614	0.320	17	7675151	missense variant	C/A;T	snv	8.0E-06		57
rs886039484	TP53	0.641	0.440	17	7674888	missense variant	T/C;G	snv			32
rs1057520001	TP53	0.677	0.360	17	7674886	missense variant	A/C;G	snv			23
rs587782289	TP53	0.752	0.240	17	7674257	missense variant	A/C;G;T	snv			15
rs1057520004	TP53	0.752	0.240	17	7674884	missense variant	A/C;T	snv			12
rs754332870	TP53	0.790	0.240	17	7676240	missense variant	C/G	snv	4.0E-06		9
rs587783064	TP53	0.851	0.120	17	7669626	missense variant	C/A;T	snv			5
rs471692	TOP2A	0.925	0.080	17	40400518	intron variant	T/A;C	snv	0.79		3
rs2075650	TOMM40	0.662	0.360	19	44892362	intron variant	A/G	snv	0.13	0.13	45