DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Cardiomyopathy, Dilated ×

Variants associated to the Gene: RBM20 ×

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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
rs267607004	RBM20	0.925	0.040	10	110812304	missense variant	G/A	snv		1.4E-05	4
rs267607003	RBM20	0.925	0.040	10	110812310	missense variant	C/A;G;T	snv			3
rs397516607	RBM20	0.925	0.040	10	110821356	missense variant	G/A	snv			3
rs1564664312	RBM20	1.000	0.040	10	110821333	missense variant	T/A	snv			2
rs267607002	RBM20	1.000	0.040	10	110812303	missense variant	C/A;T	snv			2
rs563762318	RBM20			10	110831154	missense variant	G/A	snv	2.8E-04	6.3E-05	1
rs727504763	RBM20			10	110821880	frameshift variant	CC/G	delins			1
rs727504859	RBM20			10	110821365	missense variant	G/A	snv			1