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
rs4645948	MYC ; CASC11	0.882	0.160	8	127736252	synonymous variant	C/T	snv		2.8E-02	3
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174
rs121913615	MPL	0.683	0.240	1	43349338	missense variant	G/C;T	snv	8.0E-06		25
rs10132552	MEG3	1.000	0.040	14	100834675	non coding transcript exon variant	T/C	snv		0.25	3
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs461645	LOC105372256 ; ADGRE1	1.000	0.040	19	6919742	missense variant	A/G;T	snv	0.77		1
rs776035233	LCAT	0.882	0.120	16	67940230	missense variant	C/T	snv	4.0E-06		5
rs779114194	LCAT	0.925	0.120	16	67940017	missense variant	T/C	snv		1.4E-05	4
rs267607201	KLF1	0.807	0.120	19	12885001	missense variant	C/T	snv			7
rs1531289	KDR	0.925	0.080	4	55089065	intron variant	T/A;C	snv			2
rs10761745	JMJD1C	0.882	0.240	10	63341311	intron variant	G/C	snv		0.87	3
rs1127354	ITPA	0.667	0.400	20	3213196	missense variant	C/A;G	snv	7.5E-02		26
rs7270101	ITPA	0.776	0.200	20	3213247	intron variant	A/C	snv	8.7E-02	9.7E-02	10
rs77375493	INSL6 ; JAK2	0.458	0.760	9	5073770	missense variant	G/A;T	snv	3.5E-04		187
rs1884444	IL23R ; C1orf141	0.637	0.600	1	67168129	missense variant	G/T	snv	0.52	0.51	34
rs7530511	IL23R ; C1orf141	0.742	0.400	1	67219704	missense variant	T/A;C	snv	0.88		12
rs1143634	IL1B	0.597	0.680	2	112832813	synonymous variant	G/A	snv	0.19	0.19	52
rs5744256	IL18	0.827	0.120	11	112152125	intron variant	A/G	snv		0.16	6
rs6780995	IL17RD	0.925	0.080	3	57104391	missense variant	G/A	snv	0.62	0.64	2
rs708567	IL17RC	0.807	0.200	3	9918386	missense variant	C/T	snv	0.46	0.51	6
rs987710	IGLV10-54	1.000	0.040	22	22158022	intron variant	G/A	snv		0.61	4
rs12979860	IFNL4	0.547	0.520	19	39248147	intron variant	C/T	snv		0.39	84