DisGeNET - a database of gene-disease associations

List of associated variants

Leukemia, T-Cell, C0023492

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
rs4680	COMT ; MIR4761	0.442	0.920	22	19963748	missense variant	G/A	snv	0.46	0.44	249
rs121913529	KRAS	0.492	0.680	12	25245350	missense variant	C/A;G;T	snv	4.0E-06		144
rs28934576	TP53	0.554	0.600	17	7673802	missense variant	C/A;G;T	snv	4.0E-06; 1.6E-05		78
rs1800682	ACTA2 ; FAS	0.637	0.440	10	88990206	non coding transcript exon variant	A/G	snv		0.54	32
rs752021744	PIK3CB	0.689	0.440	3	138759306	missense variant	T/C	snv	1.2E-05		29
rs4633	COMT ; MIR4761	0.695	0.400	22	19962712	synonymous variant	C/T	snv	0.46	0.45	25
rs1322648460	LOC100507144 ; CD44	0.776	0.320	11	35139332	frameshift variant	G/-	delins			9
rs759834538	NOTCH1	0.925	0.120	9	136517294	missense variant	C/A	snv	1.7E-05		3
rs2369049	TCL1A	1.000	0.120	14	95705514	downstream gene variant	A/G	snv		0.30	2
rs7158782	TCL1A	1.000	0.120	14	95702794	intergenic variant	A/G	snv		0.31	1