DisGeNET - a database of gene-disease associations

List of associated variants

Lymphoma, Non-Hodgkin, Familial, C4721532

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
rs387907272	MYD88	0.572	0.520	3	38141150	stop lost	T/C	snv	5.2E-05	7.0E-06	73
rs1023835002	B2M ; PATL2	0.763	0.280	15	44711547	start lost	A/G;T	snv			10
rs1057519877	B2M ; PATL2	0.763	0.280	15	44711549	start lost	G/A	snv			10
rs1057519879	PATL2 ; B2M	0.763	0.280	15	44711548	start lost	T/C;G	snv			10
rs1131691014	TP53	0.439	0.800	17	7676154	frameshift variant	-/C	ins			214
rs80357522	BRCA1	0.776	0.280	17	43093570	frameshift variant	TTTT/-;TT;TTT;TTTTT	delins		7.0E-06	10
rs80359306	BRCA2	0.827	0.280	13	32333284	frameshift variant	A/-;AA	delins			6
rs398122800	CASP10	1.000	0.120	2	201209189	frameshift variant	-/A	ins			1
rs1801157	CXCL12	0.611	0.600	10	44372809	3 prime UTR variant	C/T	snv		0.16	46
rs16917496	KMT5A	0.689	0.360	12	123409283	3 prime UTR variant	C/G;T	snv			21
rs4245739	MDM4	0.708	0.360	1	204549714	3 prime UTR variant	C/A;G	snv	0.77; 6.2E-06		21
rs3749474	TMEM165 ; CLOCK	0.724	0.320	4	55434518	3 prime UTR variant	C/T	snv		0.33	17
rs1800872	IL19 ; IL10	0.495	0.840	1	206773062	5 prime UTR variant	T/G	snv		0.69	119
rs1800871	IL19 ; IL10	0.508	0.800	1	206773289	5 prime UTR variant	A/G	snv		0.69	108
rs2167270	LEP	0.724	0.280	7	128241296	5 prime UTR variant	G/A	snv		0.37	17
rs2239704	LTA ; LOC100287329	0.732	0.320	6	31572364	5 prime UTR variant	A/C	snv		0.64	17
rs2070673	LOC107984284 ; CYP2E1	0.827	0.160	10	133527063	non coding transcript exon variant	A/T	snv		0.67	5
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs6265	BDNF ; BDNF-AS	0.436	0.760	11	27658369	missense variant	C/T	snv	0.19	0.15	272
rs1042522	TP53	0.426	0.800	17	7676154	missense variant	G/C;T	snv	0.67		242
rs759834365	BDNF-AS ; BDNF	0.448	0.760	11	27658456	missense variant	C/T	snv	1.2E-05		237
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs878854066	TP53	0.439	0.800	17	7676153	missense variant	GG/AC	mnv			213
rs1805087	MTR	0.496	0.800	1	236885200	missense variant	A/G	snv	0.20	0.21	135