DisGeNET - a database of gene-disease associations

List of associated variants

Myeloid Leukemia, Chronic, C0023473

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
rs3740066	ABCC2	0.724	0.440	10	99844450	missense variant	C/G;T	snv	2.4E-05; 0.34		20
rs2273697	ABCC2	0.776	0.360	10	99804058	missense variant	G/A	snv	0.19	0.19	11
rs717620	ABCC2	0.763	0.240	10	99782821	5 prime UTR variant	C/T	snv	0.17	0.15	10
rs776746	CYP3A5 ; ZSCAN25	0.724	0.400	7	99672916	splice acceptor variant	T/C	snv		0.72	21
rs754736070	MTTP	1.000	0.080	4	99597206	missense variant	T/C	snv	8.0E-06	7.0E-06	1
rs748843032	MTTP	0.807	0.160	4	99594840	missense variant	T/C	snv	4.0E-06		8
rs141157255	APAF1	0.882	0.120	12	98659331	missense variant	G/A	snv	4.0E-05	2.8E-05	3
rs1052133	OGG1 ; CAMK1	0.476	0.800	3	9757089	missense variant	C/G	snv	0.27	0.22	147
rs854560	PON1	0.513	0.800	7	95316772	missense variant	A/C;G;N;T	snv	0.29		113
rs662	PON1	0.485	0.840	7	95308134	missense variant	T/C	snv	0.38	0.42	157
rs1257378	LOC105369438 ; PIWIL4	1.000	0.080	11	94621792	intron variant	A/T	snv			1
rs2231142	ABCG2	0.583	0.680	4	88131171	missense variant	G/C;T	snv	4.0E-06; 0.12		56
rs12573787	KLLN ; PTEN	1.000	0.080	10	87863959	5 prime UTR variant	G/A;C	snv			1
rs1128503	ABCB1	0.564	0.760	7	87550285	synonymous variant	A/G	snv	0.54	0.63	64
rs2032582	ABCB1	0.538	0.800	7	87531302	missense variant	A/C;T	snv	0.54; 3.8E-02		97
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
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
rs1057519991	TP53	0.662	0.440	17	7675076	missense variant	T/A;C;G	snv	4.0E-06		26
rs2740348	GEMIN4	0.851	0.160	17	746695	missense variant	G/C;T	snv	0.85		6
rs1407906280	MDM2	0.882	0.120	12	68839467	missense variant	C/T	snv	4.0E-06	7.0E-06	3
rs1353702185	MDM2	0.550	0.720	12	68839311	missense variant	C/G	snv	4.0E-06		79
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs1190999960	ZNRD2-AS1 ; ZNRD2 ; FAM89B	0.807	0.240	11	65571690	missense variant	G/A	snv			9