DisGeNET - a database of gene-disease associations

List of associated variants

Progressive cGVHD, C3539781

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
rs6162	CYP17A1	0.925	0.080	10	102837224	synonymous variant	G/A	snv	0.42	0.40	3
rs2094258	ERCC5 ; BIVM-ERCC5	0.701	0.280	13	102844409	intron variant	C/T	snv		0.18	20
rs2296147	BIVM-ERCC5 ; ERCC5	0.695	0.280	13	102846025	5 prime UTR variant	T/C	snv		0.38	21
rs58124832	CACNA1H	0.925	0.080	16	1218376	missense variant	G/A;T	snv	5.5E-02		3
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs775040765	BRAF	1.000		7	140800366	missense variant	T/C	snv	8.0E-05	1.4E-05	2
rs2228001	XPC	0.570	0.480	3	14145949	missense variant	G/T	snv	0.63	0.65	60
rs1062577	ESR1	0.882	0.080	6	152102770	3 prime UTR variant	T/A;G	snv			4
rs121913279	PIK3CA	0.526	0.560	3	179234297	missense variant	A/G;T	snv	4.0E-06; 4.0E-06		101
rs1800876	CMA1	1.000		14	24510007	upstream gene variant	G/A	snv		0.24	2
rs1800875	CMA1	0.742	0.360	14	24510132	upstream gene variant	C/T	snv		0.41	12
rs1057519783	ALK	0.851	0.080	2	29220747	missense variant	C/T	snv			10
rs1057519698	ALK	0.827	0.120	2	29222347	missense variant	A/G;T	snv			8
rs28933979	TTR	0.587	0.600	18	31592974	missense variant	G/A;C	snv	1.0E-04		70
rs121912456	SOD1 ; LOC102724449	0.851	0.120	21	31659806	missense variant	G/C	snv			6
rs121912433	SOD1	0.827	0.120	21	31663841	missense variant	G/A	snv	4.0E-06		7
rs121912436	SOD1	0.827	0.080	21	31667274	missense variant	G/A;C	snv			7
rs80265967	SOD1	0.732	0.200	21	31667290	missense variant	A/C;T	snv	1.4E-03	1.2E-03	16
rs774994509	SOD1	0.851	0.080	21	31667296	missense variant	A/G	snv	4.0E-06		5
rs877610	TRPV1	1.000		17	3572196	synonymous variant	C/T	snv	4.6E-02	7.5E-02	3
rs28937900	FKRP	0.752	0.160	19	46756276	missense variant	C/A;T	snv	1.0E-03		37
rs74315409	PRNP	0.742	0.240	20	4699915	missense variant	T/G	snv	6.0E-05	2.1E-05	13
rs61731956	NR1H3 ; MADD	0.925	0.080	11	47268596	missense variant	G/A	snv	2.2E-04	2.6E-04	3
rs121908585	PDGFRA	0.827	0.080	4	54285926	missense variant	A/T	snv			9