DisGeNET - a database of gene-disease associations

List of associated variants

Lymphoma, C0024299

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
rs1800975	XPA	0.701	0.360	9	97697296	5 prime UTR variant	T/C;G	snv	0.63; 4.5E-06; 4.5E-06		19
rs662	PON1	0.485	0.840	7	95308134	missense variant	T/C	snv	0.38	0.42	157
rs1353428252	IDH2	0.851	0.120	15	90088681	missense variant	A/C	snv	8.0E-06		5
rs121913503	IDH2	0.689	0.200	15	90088606	missense variant	C/A;T	snv			23
rs61754966	NBN	0.701	0.280	8	89978293	missense variant	T/C;G	snv	1.2E-03		23
rs869312777	PTEN	0.925	0.120	10	87933245	missense variant	C/G	snv			3
rs1257715362	MAPK10 ; ARHGAP24	0.925	0.120	4	85995065	missense variant	A/G	snv		7.0E-06	3
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs563378859	TP53	0.851	0.320	17	7675146	missense variant	G/A	snv	4.0E-06	2.1E-05	8
rs867114783	TP53			17	7675109	missense variant	T/C	snv			6
rs28934578	TP53	0.605	0.600	17	7675088	missense variant	C/A;T	snv	4.0E-06		47
rs11540652	TP53	0.592	0.640	17	7674220	missense variant	C/A;G;T	snv	1.2E-05		57
rs879253942	TP53	0.677	0.400	17	7673826	missense variant	A/G	snv			28
rs1555525126	TP53	0.925	0.120	17	7673749	missense variant	T/C	snv			3
rs2227307	CXCL8	0.851	0.240	4	73740952	intron variant	T/G	snv		0.45	6
rs4073	CXCL8	0.566	0.800	4	73740307	upstream gene variant	A/T	snv		0.46	64
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs74790047	CHD4	0.851	0.120	12	6601978	missense variant	A/C;G	snv	2.0E-05; 1.2E-04; 5.2E-03	1.7E-03	7
rs867830180	TNFRSF6B ; RTEL1 ; RTEL1-TNFRSF6B	0.925	0.120	20	63695147	missense variant	G/A;T	snv			3
rs121434629	PMS2	0.763	0.320	7	6005918	missense variant	C/A;T	snv	1.6E-04; 8.1E-06		13
rs267608150	PMS2	0.851	0.320	7	5997388	stop gained	AGGGGG/CTTCACAAC;CTTCACACACA;NNNNNNNNNNN	delins			7
rs63750250	PMS2	0.807	0.280	7	5986933	frameshift variant	-/T	delins	1.6E-05	4.2E-05	9
rs948562	ZFP91-CNTF ; ZFP91			11	58580292	intron variant	A/G	snv		0.15	1