DisGeNET - a database of gene-disease associations

List of associated variants

Anemia, C0002871

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
rs10132552	MEG3	1.000	0.040	14	100834675	non coding transcript exon variant	T/C	snv		0.25	3
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs104894808	GATA1	0.851	0.120	X	48792376	missense variant	G/T	snv			4
rs104894815	GATA1	0.776	0.120	X	48792337	missense variant	G/A	snv			9
rs104894816	GATA1	0.827	0.120	X	48792377	missense variant	A/G	snv			6
rs1050828	G6PD	0.790	0.200	X	154536002	missense variant	C/T	snv	9.1E-03	3.6E-02	15
rs1050829	G6PD	0.827	0.160	X	154535277	missense variant	T/A;C	snv	1.7E-04; 2.6E-02		5
rs1057516674	G6PC	0.882	0.160	17	42901026	frameshift variant	GT/-	del			5
rs1057520529	FOXP3	0.851	0.320	X	49251440	missense variant	C/T	snv			5
rs1060499688	GNPTAB	0.882	0.200	12	101753399	missense variant	A/G	snv			4
rs10761745	JMJD1C	0.882	0.240	10	63341311	intron variant	G/C	snv		0.87	3
rs1114167422	SNORA56 ; DKC1	0.776	0.320	X	154773148	missense variant	A/G	snv			11
rs1127354	ITPA	0.667	0.400	20	3213196	missense variant	C/A;G	snv	7.5E-02		26
rs1128503	ABCB1	0.564	0.760	7	87550285	synonymous variant	A/G	snv	0.54	0.63	64
rs1143634	IL1B	0.597	0.680	2	112832813	synonymous variant	G/A	snv	0.19	0.19	52
rs11549465	HIF1A-AS3 ; HIF1A	0.597	0.680	14	61740839	missense variant	C/T	snv	8.8E-02	7.7E-02	55
rs11568350	SLC40A1	0.790	0.240	2	189565370	missense variant	C/A	snv	3.8E-03	1.6E-02	9
rs11615	ERCC1	0.572	0.640	19	45420395	synonymous variant	A/G	snv	0.50	0.55	62
rs11854484	SLC28A2 ; LOC101928414	0.925	0.120	15	45253280	missense variant	C/T	snv	0.47	0.45	2
rs1196547982	TLR2	0.925	0.120	4	153703650	missense variant	A/G	snv	4.0E-06	7.0E-06	2
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs121908117	ATRIP ; TREX1 ; ATRIP-TREX1	0.708	0.440	3	48466707	missense variant	G/A	snv			17
rs121913615	MPL	0.683	0.240	1	43349338	missense variant	G/C;T	snv	8.0E-06		25
rs121918367	SLC11A2	0.827	0.080	12	50999214	missense variant	C/A;T	snv	6.0E-05		5
rs12762549		1.000	0.040	10	99861014	intergenic variant	C/G;T	snv			1