DisGeNET - a database of gene-disease associations

List of associated variants

Gastrointestinal mucositis, C0521585

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
rs1045642	ABCB1	0.456	0.840	7	87509329	synonymous variant	A/G;T	snv	0.50		214
rs1801133	MTHFR	0.472	0.880	1	11796321	missense variant	G/A	snv	0.31	0.27	174
rs2231142	ABCG2	0.583	0.680	4	88131171	missense variant	G/C;T	snv	4.0E-06; 0.12		56
rs1870377	KDR	0.695	0.520	4	55106807	missense variant	T/A	snv	0.22	0.20	25
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
rs8133052	CBR3 ; CBR3-AS1	0.925	0.120	21	36135203	missense variant	G/A;C	snv	0.44		6
rs4240803	SLC7A5 ; LOC107987237	0.851	0.240	16	87855597	intron variant	G/A;C;T	snv			4
rs11081899	ZNF24	0.851	0.160	18	35344446	5 prime UTR variant	G/A;C;T	snv			4
rs532545	CDA	0.882	0.160	1	20588679	upstream gene variant	C/A;T	snv			3
rs2838958	SLC19A1	1.000	0.080	21	45528653	intron variant	G/A	snv		0.45	3
rs602950	CDA	0.925	0.080	1	20589038	upstream gene variant	A/G	snv		0.25	2
rs2306744	MOB1B ; DCK	0.925	0.080	4	70993635	5 prime UTR variant	C/A;G;T	snv			2
rs10515074	PIK3R1	0.925	0.120	5	68270365	intron variant	A/G;T	snv			2
rs9906827	RPTOR	0.925	0.120	17	80691605	intron variant	C/A;T	snv			2
rs7317112	ABCC4	1.000	0.080	13	95271269	intron variant	A/G	snv		0.37	1
rs757254775	ABCG2	1.000	0.080	4	88101293	missense variant	G/T	snv	4.0E-06		1