DisGeNET - a database of gene-disease associations

List of shared variants

Tumor Progression, C0178874

Disease: Breast 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
rs1285136498	NR3C1	0.807	0.080	5	143400101	missense variant	G/A	snv			13
rs200863613	CDKN2A	0.925	0.080	9	21971061	missense variant	C/A;T	snv	8.5E-05	3.7E-04	6
rs1288373809	TP53	0.882	0.120	17	7673255	synonymous variant	G/A	snv	5.3E-06		5
rs3136797	POLB	0.827	0.120	8	42369287	missense variant	C/G	snv	1.1E-02	1.1E-02	10
rs438034	CENPF	0.882	0.120	1	214657274	stop gained	A/G;T	snv	0.61		4
rs2016347	IGF1R	0.790	0.160	15	98960571	3 prime UTR variant	G/A;T	snv			9
rs4987188	MSH2	0.790	0.200	2	47416318	missense variant	G/A;T	snv	1.3E-02; 2.0E-05		11
rs17217772	MSH2	0.790	0.240	2	47410107	missense variant	A/C;G;T	snv	5.8E-03		10
rs145204276	ZBTB37 ; SNORD74 ; SNORD75 ; GAS5 ; SNORD77 ; SNORA103 ; SNORD76	0.658	0.320	1	173868254	splice donor variant	CAAGG/-	delins		8.8E-02	31
rs375874539	TP53	0.732	0.320	17	7674237	missense variant	G/A;C	snv			15
rs762846821	TP53	0.614	0.320	17	7675151	missense variant	C/A;T	snv	8.0E-06		57
rs2273535	AURKA	0.645	0.360	20	56386485	missense variant	A/C;T	snv	0.28		38
rs11549467	HIF1A ; HIF1A-AS3	0.653	0.400	14	61740857	missense variant	G/A	snv	8.9E-03	7.0E-03	30
rs1042028	SULT1A1	0.658	0.440	16	28606193	missense variant	C/T	snv	0.22	0.30	30
rs9282861	SULT1A1	0.658	0.440	16	28606193	missense variant	C/T	snv			31
rs121434569	EGFR-AS1 ; EGFR	0.581	0.520	7	55181378	missense variant	C/T	snv	2.8E-05	5.6E-05	70
rs2227983	EGFR	0.658	0.520	7	55161562	missense variant	G/A;C;T	snv	0.29		31
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
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		101
rs351855	FGFR4	0.597	0.560	5	177093242	missense variant	G/A	snv	0.33	0.26	58
rs28934578	TP53	0.605	0.600	17	7675088	missense variant	C/A;T	snv	4.0E-06		47
rs1800206	PPARA	0.641	0.640	22	46218377	missense variant	C/G	snv	4.3E-02	4.2E-02	35
rs11549465	HIF1A-AS3 ; HIF1A	0.597	0.680	14	61740839	missense variant	C/T	snv	8.8E-02	7.7E-02	55