DisGeNET - a database of gene-disease associations

List of associated variants

Leukopenia, C0023530

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
rs4148396	ABCC2	0.925	0.040	10	99832187	intron variant	T/C	snv		0.65	2
rs717620	ABCC2	0.763	0.240	10	99782821	5 prime UTR variant	C/T	snv	0.17	0.15	10
rs1885301	ABCC2	0.925	0.040	10	99781296	upstream gene variant	A/G	snv		0.58	2
rs776746	CYP3A5 ; ZSCAN25	0.724	0.400	7	99672916	splice acceptor variant	T/C	snv		0.72	21
rs3087403	REV1	0.925	0.040	2	99442408	missense variant	C/T	snv	0.28	0.28	2
rs1801265	DPYD	0.763	0.280	1	97883329	missense variant	A/G	snv		0.28	13
rs2297595	DPYD	0.776	0.320	1	97699535	missense variant	T/C	snv	8.5E-02	8.1E-02	10
rs1218899764	DPYD	1.000	0.040	1	97515829	missense variant	A/G	snv			1
rs17376848	DPYD	0.925	0.040	1	97450068	synonymous variant	A/G	snv	5.1E-02	4.3E-02	3
rs3918290	DPYD	0.882	0.080	1	97450058	splice donor variant	C/G;T	snv	8.0E-06; 5.6E-03		3
rs1801160	DPYD ; DPYD-AS1	0.807	0.240	1	97305364	missense variant	C/T	snv	4.7E-02	3.9E-02	6
rs67376798	DPYD	0.851	0.120	1	97082391	missense variant	T/A	snv	2.8E-03	3.3E-03	9
rs3765534	ABCC4	0.882	0.200	13	95163161	missense variant	C/T	snv	2.3E-02	1.2E-02	4
rs9561778	ABCC4	0.851	0.120	13	95061461	intron variant	G/A;T	snv			4
rs10509681	CYP2C8	0.807	0.160	10	95038992	missense variant	T/C	snv	8.3E-02	8.0E-02	8
rs1057910	CYP2C9	0.776	0.280	10	94981296	missense variant	A/C;G	snv	6.3E-02; 4.0E-06		12
rs1799853	CYP2C9	0.763	0.320	10	94942290	missense variant	C/T	snv	9.2E-02	8.9E-02	11
rs3758581	CYP2C19	0.925	0.040	10	94842866	missense variant	A/G	snv		0.95	3
rs4244285	CYP2C19	0.695	0.360	10	94781859	synonymous variant	G/A;C	snv	0.18		18
rs1558284033	DIPK1A ; RPL5	0.851	0.080	1	92833637	frameshift variant	AACA/-	delins			4
rs586014	RAD18	1.000	0.040	3	8965408	upstream gene variant	A/G	snv		0.82	1
rs9880051	RAD18	1.000	0.040	3	8962766	intron variant	C/G;T	snv			1
rs618784	RAD18	1.000	0.040	3	8962743	intron variant	C/G;T	snv			1
rs654448	RAD18	1.000	0.040	3	8893530	intron variant	C/T	snv		0.85	1