DisGeNET - a database of gene-disease associations

List of shared variants

Breast Carcinoma, C0678222

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 GENOME	Num. diseases
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
rs1057520001	TP53	0.677	0.360	17	7674886	missense variant	A/C;G	snv		23
rs11134527	MIR218-2 ; SLIT3	0.677	0.400	5	168768351	intron variant	G/A	snv	0.25	24
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins		214
rs121434568	EGFR	0.568	0.560	7	55191822	missense variant	T/A;G	snv		73
rs121913273	PIK3CA	0.605	0.440	3	179218294	missense variant	G/A;C	snv		44
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv		480
rs1256046734	LEPR	0.763	0.280	1	65621409	missense variant	A/G	snv	7.0E-06	12
rs1258159645	NQO1	0.630	0.600	16	69711128	missense variant	G/A	snv	7.0E-06	37
rs1801320	RAD51 ; RAD51-AS1	0.742	0.160	15	40695330	5 prime UTR variant	G/C	snv	0.12	15
rs1801321	RAD51 ; RAD51-AS1	0.790	0.160	15	40695367	5 prime UTR variant	G/C;T	snv	0.35	8
rs187115	CD44	0.695	0.320	11	35154612	intron variant	T/C	snv	0.37	22
rs1899663	HOTAIR	0.683	0.280	12	53967210	intron variant	C/A	snv	0.28	22
rs2233678	PIN1 ; LOC100996288	0.732	0.360	19	9834503	non coding transcript exon variant	G/A;C	snv		14
rs2736100	TERT	0.550	0.880	5	1286401	3 prime UTR variant	C/A	snv	0.52	83
rs2853676	TERT	0.667	0.560	5	1288432	intron variant	T/A;C	snv		29
rs361525	TNF	0.562	0.760	6	31575324	upstream gene variant	G/A	snv	4.6E-02	62
rs3813867	LOC107984284 ; CYP2E1	0.732	0.240	10	133526101	intron variant	G/A;C	snv		13
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv		306
rs4073	CXCL8	0.566	0.800	4	73740307	upstream gene variant	A/T	snv	0.46	64
rs4645978	CASP9 ; DNAJC16	0.827	0.120	1	15525539	intron variant	C/A;T	snv		8
rs751402	ERCC5 ; BIVM-ERCC5	0.724	0.360	13	102845848	5 prime UTR variant	A/G	snv	0.76	15
rs833061	VEGFA	0.605	0.600	6	43769749	upstream gene variant	C/G;T	snv		42
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv		213