DisGeNET - a database of gene-disease associations

List of associated variants

Neutropenia, C0027947

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
rs1424665740	SLC10A2	0.925	0.040	13	103066068	missense variant	T/C	snv	4.0E-06	7.0E-06	2
rs6478317		0.882	0.120	9	117701903	upstream gene variant	G/A	snv			3
rs1927911	TLR4	0.658	0.640	9	117707776	intron variant	A/G	snv		0.62	28
rs11536889	TLR4	0.658	0.560	9	117715853	3 prime UTR variant	G/C	snv		0.11	27
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs7091672		0.925	0.040	10	118836909	intron variant	T/A;C;G	snv			2
rs1326123837	SLC37A4 ; TRAPPC4	0.925	0.040	11	119025310	missense variant	C/T	snv		7.0E-06	2
rs782692832	SLC37A4	0.925	0.040	11	119026688	missense variant	C/T	snv	4.6E-06		2
rs193302889	SLC37A4	0.882	0.120	11	119029289	missense variant	A/T	snv	8.0E-06		3
rs1801019	UMPS	0.882	0.080	3	124737895	missense variant	G/A;C	snv	4.0E-06; 0.19		4
rs2032592	DDX3Y	0.851	0.160	Y	12919473	3 prime UTR variant	A/G	snv		1.6E-04	5
rs1460631883	MTG1	0.882	0.120	10	133420041	missense variant	T/C	snv	8.0E-06		3
rs1901440		0.925	0.040	2	133680388	intergenic variant	C/A	snv		0.58	2
rs104893624	LOC112268426 ; CXCR4	0.851	0.200	2	136114928	stop gained	G/A	snv			4
rs121913377	BRAF	0.354	0.840	7	140753335	missense variant	CA/AT;TT	mnv			480
rs113488022	BRAF	0.351	0.840	7	140753336	missense variant	A/C;G;T	snv	4.0E-06		490
rs1422359334	GSTK1 ; LOC105375545	0.925	0.040	7	143264131	missense variant	C/A;T	snv	4.0E-06		2
rs879255237	VPS45	0.807	0.160	1	150077763	missense variant	C/A	snv			7
rs2814778	CADM3-AS1 ; ACKR1	0.763	0.360	1	159204893	5 prime UTR variant	T/C	snv		0.25	24
rs6498588	LOC107984869	0.925	0.040	16	15938949	intergenic variant	A/T	snv		0.65	2
rs17501331	ABCC1	0.925	0.040	16	15995584	intron variant	A/G	snv		7.7E-02	2
rs72552763	SLC22A1	0.925	0.040	6	160139849	inframe deletion	GAT/-	delins		0.15	3
rs2074087	ABCC1	0.882	0.080	16	16090375	intron variant	C/G	snv	0.81	0.83	3
rs1260186456	ABCC1	0.925	0.040	16	16102659	missense variant	G/T	snv	9.4E-06		2
rs546229463	FCGR3B	0.925	0.040	1	161629912	missense variant	T/C	snv			2