DisGeNET - a database of gene-disease associations

List of associated variants

Malnutrition, C0162429

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
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
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	262
rs854560	PON1	0.513	0.800	7	95316772	missense variant	A/C;G;N;T	snv	0.29		113
rs6025	F5	0.637	0.560	1	169549811	missense variant	C/T	snv		1.8E-02	43
rs587782995	PURA	0.708	0.360	5	140114480	missense variant	T/C	snv			42
rs4918	AHSG	0.763	0.400	3	186620593	missense variant	G/A;C	snv	0.67		12
rs121918474	PROS1	0.763	0.320	3	93905799	missense variant	T/C	snv	2.8E-05	1.4E-05	11
rs149989682	ABCA3	0.790	0.240	16	2317763	missense variant	T/A;C	snv	2.3E-03		10
rs781214034	EDNRB ; EDNRB-AS1	0.790	0.320	13	77903538	missense variant	C/T	snv	1.3E-04	2.8E-05	10
rs4917	AHSG	0.790	0.160	3	186619924	missense variant	T/C	snv	0.68	0.68	9
rs1566304640	EDNRB-AS1 ; EDNRB	0.827	0.280	13	77900593	missense variant	G/A	snv			8
rs80359825	SLC2A1	0.790	0.360	1	42929009	missense variant	G/A	snv			7
rs80359826	SLC2A1	0.807	0.120	1	42929018	stop gained	G/A;T	snv	4.0E-06		7
rs35457250	AHSG	0.925	0.080	3	186620775	missense variant	C/T	snv	9.0E-03	8.1E-03	5
rs70961709	AHSG	1.000	0.040	3	186620652	missense variant	G/A;C	snv	4.0E-06; 4.0E-06		3
rs111033690	GALT	0.882	0.120	9	34647858	missense variant	C/G;T	snv	4.0E-06; 2.5E-04		3
rs80359823	SLC2A1	0.882	0.080	1	42929298	missense variant	G/A	snv			3
rs1252641479	ARHGEF7	1.000	0.040	13	111300800	missense variant	T/G	snv	4.0E-06		2
rs1286080173	ATP7B	0.925	0.160	13	51942551	missense variant	G/A;C	snv	8.0E-06; 4.0E-06		2
rs376910645	ATP7B	0.925	0.160	13	51944162	missense variant	C/T	snv	4.0E-06		2
rs749085322	ATP7B	0.925	0.160	13	51941132	missense variant	T/C	snv	4.0E-05	2.1E-05	2
rs775541743	ATP7B	0.925	0.160	13	51942481	missense variant	A/T	snv	4.0E-06		2
rs769214	CAT	0.925	0.160	11	34438170	upstream gene variant	G/A	snv		0.61	2
rs761234173	CDH13	1.000	0.040	16	83783345	missense variant	G/A	snv	4.0E-06		2