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
rs3761548	FOXP3	0.620	0.680	X	49261784	intron variant	G/A;T	snv			42
rs137852578	AR	0.827	0.080	X	67723710	missense variant	A/G	snv			10
rs1800206	PPARA	0.641	0.640	22	46218377	missense variant	C/G	snv	4.3E-02	4.2E-02	35
rs2073778	DGCR8			22	20087052	non coding transcript exon variant	C/T	snv		0.12	1
rs720012	DGCR8			22	20111059	3 prime UTR variant	G/A	snv		0.12	1
rs758272654	GNAS	0.611	0.680	20	58909201	synonymous variant	T/C	snv	4.0E-06	7.0E-06	50
rs2273535	AURKA	0.645	0.360	20	56386485	missense variant	A/C;T	snv	0.28		38
rs7121	GNAS	0.882	0.160	20	58903752	missense variant	C/G;T	snv	0.54		6
rs1799782	XRCC1	0.474	0.800	19	43553422	missense variant	G/A	snv	9.5E-02	7.0E-02	151
rs1800470	TGFB1	0.515	0.840	19	41353016	missense variant	G/A;C	snv	0.55; 2.4E-04		107
rs25489	XRCC1	0.550	0.720	19	43552260	missense variant	C/G;T	snv	8.5E-06; 7.1E-02		78
rs11672691	PCAT19	0.925	0.080	19	41479679	non coding transcript exon variant	G/A	snv		0.42	3
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
rs121917887	NME1-NME2 ; NME1	0.790	0.120	17	51161744	missense variant	A/G	snv	6.0E-05	7.0E-05	10
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
rs201216664	NME1-NME2 ; NME2	0.851	0.080	17	51171503	missense variant	A/G	snv			5
rs587782148	TP53			17	7676113	missense variant	C/T	snv			2
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
rs2016347	IGF1R	0.790	0.160	15	98960571	3 prime UTR variant	G/A;T	snv			9
rs11549465	HIF1A-AS3 ; HIF1A	0.597	0.680	14	61740839	missense variant	C/T	snv	8.8E-02	7.7E-02	55
rs11549467	HIF1A ; HIF1A-AS3	0.653	0.400	14	61740857	missense variant	G/A	snv	8.9E-03	7.0E-03	30