DisGeNET - a database of gene-disease associations

List of associated variants

Reduced brain N-acetyl aspartate level by MRS, C4022761

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
rs587782995	PURA	0.708	0.360	5	140114480	missense variant	T/C	snv			42
rs387907145	ROGDI	0.695	0.440	16	4800548	stop gained	G/A	snv			36
rs886039469	KCNMA1-AS1 ; KCNMA1	0.701	0.560	10	76891709	missense variant	T/C	snv			35
rs786205124	ROGDI	0.701	0.400	16	4798593	frameshift variant	G/-;GGG	delins		3.5E-05	35
rs1057524820	SCN8A	0.776	0.280	12	51765746	missense variant	G/A;T	snv			33
rs1568523935	SLC25A42	0.776	0.240	19	19105656	stop gained	C/G	snv			20
rs139632595	EXOSC9	0.807	0.160	4	121801465	missense variant	T/C	snv	6.0E-05	2.5E-04	19
rs886041091	NTRK2	0.807	0.120	9	84751990	missense variant	A/G	snv			18