DisGeNET - a database of gene-disease associations

List of associated variants

Adult Diffuse Large B-Cell Lymphoma, C1332201

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
rs10484561		0.827	0.160	6	32697643	intergenic variant	T/G	snv		0.13	6
rs7765004		0.925	0.120	6	113750518	regulatory region variant	A/C	snv		0.32	2
rs1390458638	ABCB6	0.925	0.120	2	219216441	missense variant	G/A	snv	4.0E-06		2
rs2231142	ABCG2	0.583	0.680	4	88131171	missense variant	G/C;T	snv	4.0E-06; 0.12		56
rs1312391542	ATG5 ; PRDM1	0.925	0.120	6	106104897	missense variant	G/A;T	snv			2
rs1880030	BCL7A	0.925	0.120	12	122046634	intron variant	G/A	snv		0.39	2
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs6449182	CD38	0.807	0.160	4	15778830	intron variant	C/G	snv		0.22	6
rs20551	EP300	0.752	0.320	22	41152004	missense variant	A/G	snv	0.31	0.23	10
rs2234922	EPHX1	0.630	0.440	1	225838705	missense variant	A/G;T	snv	0.19; 2.8E-05		42
rs1178732315	GBA	0.882	0.240	1	155236381	missense variant	A/G	snv		1.4E-05	3
rs1227230819	GDNF ; GDNF-AS1	0.925	0.120	5	37815877	missense variant	T/C	snv	4.0E-06		2
rs1800890	IL19	0.658	0.400	1	206776020	intron variant	A/T	snv		0.32	29
rs1800795	IL6-AS1 ; IL6 ; STEAP1B	0.494	0.840	7	22727026	intron variant	C/G	snv		0.71	140
rs1800797	IL6 ; IL6-AS1 ; STEAP1B	0.605	0.800	7	22726602	non coding transcript exon variant	A/G	snv		0.72	43
rs13181	KLC3 ; ERCC2	0.487	0.760	19	45351661	stop gained	T/A;G	snv	4.0E-06; 0.32		134
rs121913529	KRAS	0.492	0.680	12	25245350	missense variant	C/A;G;T	snv	4.0E-06		144
rs121913530	KRAS	0.583	0.640	12	25245351	missense variant	C/A;G;T	snv			63
rs17851045	KRAS	0.672	0.400	12	25227341	missense variant	T/A;G	snv	4.0E-06		27
rs121913240	KRAS	0.672	0.440	12	25227342	missense variant	T/A;C;G	snv			24
rs121913238	KRAS	0.732	0.240	12	25227343	missense variant	G/C;T	snv			17
rs7712513	LOC101927357	0.925	0.120	5	122582513	intergenic variant	G/T	snv		0.71	2
rs28933406	LRRC56 ; HRAS	0.667	0.480	11	533875	missense variant	G/C;T	snv			27
rs121913496	LRRC56 ; HRAS	0.724	0.440	11	533873	missense variant	C/A;G;T	snv			16