DisGeNET - a database of gene-disease associations

List of associated variants

Tumor Progression, C0178874

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
rs145204276	ZBTB37 ; SNORD74 ; SNORD75 ; GAS5 ; SNORD77 ; SNORA103 ; SNORD76	0.658	0.320	1	173868254	splice donor variant	CAAGG/-	delins		8.8E-02	31
rs1799782	XRCC1	0.474	0.800	19	43553422	missense variant	G/A	snv	9.5E-02	7.0E-02	151
rs25489	XRCC1	0.550	0.720	19	43552260	missense variant	C/G;T	snv	8.5E-06; 7.1E-02		78
rs1443465532	VEGFA	0.882	0.080	6	43774362	missense variant	G/C	snv	4.0E-06	7.0E-06	6
rs762846821	TP53	0.614	0.320	17	7675151	missense variant	C/A;T	snv	8.0E-06		57
rs28934578	TP53	0.605	0.600	17	7675088	missense variant	C/A;T	snv	4.0E-06		47
rs375874539	TP53	0.732	0.320	17	7674237	missense variant	G/A;C	snv			15
rs587782529	TP53	0.851	0.200	17	7670700	missense variant	G/A;C	snv			8
rs1288373809	TP53	0.882	0.120	17	7673255	synonymous variant	G/A	snv	5.3E-06		5
rs587782148	TP53			17	7676113	missense variant	C/T	snv			2
rs4986790	TLR4	0.438	0.800	9	117713024	missense variant	A/G;T	snv	6.1E-02; 4.0E-06		223
rs4986791	TLR4	0.456	0.840	9	117713324	missense variant	C/T	snv	5.7E-02	4.9E-02	182
rs1800470	TGFB1	0.515	0.840	19	41353016	missense variant	G/A;C	snv	0.55; 2.4E-04		107
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
rs4880	SOD2	0.500	0.840	6	159692840	missense variant	A/G	snv	0.48	0.47	131
rs762807774	SDF4	1.000	0.040	1	1228495	frameshift variant	CGCGGCTCCGC/-;CGCGGCTCCGCCGCGGCTCCGC	delins		7.0E-06	2
rs121918464	PTPN11	0.708	0.440	12	112450406	missense variant	G/A;C	snv			25
rs562015640	PTEN	0.742	0.360	10	87960957	stop gained	A/G;T	snv	1.2E-05		16
rs1800206	PPARA	0.641	0.640	22	46218377	missense variant	C/G	snv	4.3E-02	4.2E-02	35
rs3136797	POLB	0.827	0.120	8	42369287	missense variant	C/G	snv	1.1E-02	1.1E-02	10
rs1273593548	PIK3CG	0.716	0.160	7	106867593	missense variant	T/G	snv	8.4E-06		19
rs752021744	PIK3CB	0.689	0.440	3	138759306	missense variant	T/C	snv	1.2E-05		29
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		101
rs969139366	PDGFRA			4	54277974	missense variant	T/C	snv		3.5E-05	3