DisGeNET - a database of gene-disease associations

Source: CURATED

Variants associated to the Disease: Mitochondrial Diseases ×

Variants associated to the Gene: RMND1 ×

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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
rs115079861	RMND1	1.000		6	151405236	stop lost	C/G;T	snv	2.0E-05; 4.0E-03		3
rs144972972	RMND1	1.000		6	151430154	missense variant	T/C	snv	2.0E-04	2.4E-04	2
rs397515421	RMND1	1.000		6	151405787	missense variant	C/T	snv	2.0E-05	2.1E-05	2
rs370863743	RMND1			6	151436526	missense variant	G/A;T	snv	2.4E-05		1
rs771894262	RMND1			6	151433213	missense variant	C/G;T	snv	4.0E-06; 4.0E-06		1
rs773470671	RMND1			6	151427481	splice donor variant	C/T	snv	2.4E-05		1
rs886037771	RMND1			6	151405734	missense variant	G/A	snv			1
rs886037772	RMND1			6	151436494	stop gained	G/A	snv		7.0E-06	1
rs886037773	RMND1			6	151405719	splice donor variant	C/A;G	snv	4.0E-06		1