DisGeNET - a database of gene-disease associations

List of associated variants

B-CELL MALIGNANCY, LOW-GRADE, C1868683

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
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs77375493	INSL6 ; JAK2	0.458	0.760	9	5073770	missense variant	G/A;T	snv	3.5E-04		187
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
rs11554290	NRAS	0.583	0.600	1	114713908	missense variant	T/A;C;G	snv			59
rs758272654	GNAS	0.611	0.680	20	58909201	synonymous variant	T/C	snv	4.0E-06	7.0E-06	50
rs121913237	NRAS	0.611	0.560	1	114716126	missense variant	C/A;G;T	snv	8.0E-06		50
rs1057519695	NRAS	0.641	0.520	1	114713907	missense variant	TT/CA;CC	mnv			35
rs1057519834	NRAS	0.658	0.480	1	114713908	missense variant	TG/CT	mnv			31
rs121913250	NRAS	0.683	0.440	1	114716127	missense variant	C/A;G;T	snv			25
rs121913240	KRAS	0.672	0.440	12	25227342	missense variant	T/A;C;G	snv			24
rs10434	VEGFA	0.701	0.480	6	43785475	3 prime UTR variant	A/G	snv		0.59	17
rs9514828	TNFSF13B	0.752	0.440	13	108269025	intron variant	C/T	snv		0.35	12
rs956572	BCL2	0.742	0.280	18	63153338	intron variant	A/G	snv		0.65	11
rs1800561	CD38	0.807	0.240	4	15824935	missense variant	C/A;T	snv	8.0E-06; 4.4E-04		7
rs3803800	TNFSF13 ; TNFSF12-TNFSF13	0.807	0.240	17	7559652	missense variant	A/G	snv	0.70	0.64	7
rs6449182	CD38	0.807	0.160	4	15778830	intron variant	C/G	snv		0.22	6
rs4985726	TNFRSF13B	0.925	0.120	17	16960324	intron variant	C/G	snv		0.11	5
rs1373425060	AK3	0.925	0.120	9	4719290	missense variant	G/C	snv	4.0E-06		2