DisGeNET - a database of gene-disease associations

List of associated variants

Chagas Cardiomyopathy, C0007930

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
rs8177374	TIRAP	0.672	0.520	11	126292948	missense variant	C/T	snv	0.12	0.11	22
rs3819024	IL17A	0.701	0.560	6	52185988	upstream gene variant	A/G	snv		0.34	17
rs4711998	IL17A	0.708	0.360	6	52185555	upstream gene variant	A/G	snv		0.64	16
rs7747909	IL17A	0.790	0.320	6	52189451	3 prime UTR variant	G/A	snv		0.18	7
rs2043055	IL18	0.925	0.080	11	112160901	intron variant	A/G;T	snv			3
rs4149018	SLCO1B1	1.000	0.080	12	21138627	intron variant	T/G	snv		4.3E-02	2
rs12319113		1.000	0.080	12	18871624	intergenic variant	G/A;C	snv			1
rs182503338	ILRUN	1.000	0.080	6	34614497	intron variant	T/G	snv		2.3E-02	1