DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Gene: AARS2 ×

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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
rs138119149	AARS2 ; TMEM151B	0.807	0.280	6	44304512	missense variant	G/A	snv	2.1E-04	2.4E-04	11
rs587777589	AARS2	0.851	0.280	6	44311095	frameshift variant	-/C	delins			7
rs368934219	AARS2 ; TMEM151B	1.000		6	44303177	splice acceptor variant	T/C	snv	1.6E-05	1.4E-05	2
rs587777591	TMEM151B ; AARS2	0.925		6	44305072	stop gained	G/A	snv	8.0E-06		2
rs1181554646	AARS2			6	44311393	stop gained	A/C	snv	4.0E-06		1
rs200105202	AARS2			6	44311148	missense variant	G/A	snv	8.8E-05	7.0E-05	1
rs387907061	AARS2	1.000		6	44311507	missense variant	A/C	snv	1.2E-05	1.4E-05	1
rs587777590	AARS2	1.000		6	44313175	missense variant	A/C	snv			1
rs1179887323	AARS2 ; TMEM151B	1.000	0.080	6	44307303	missense variant	C/A;T	snv	4.0E-06		1
rs146512155	AARS2 ; TMEM151B	1.000		6	44305099	missense variant	C/G;T	snv	2.8E-04; 3.2E-05		1
rs369566535	AARS2 ; TMEM151B			6	44304659	missense variant	G/A;C	snv	3.6E-05; 2.8E-05		1
rs543267101	AARS2 ; TMEM151B	1.000		6	44300612	missense variant	C/T	snv	4.0E-05	4.2E-05	1
rs587777592	AARS2 ; TMEM151B	1.000		6	44306367	missense variant	C/T	snv	1.6E-05	7.0E-06	1
rs759670932	AARS2 ; TMEM151B	1.000	0.120	6	44307324	missense variant	C/T	snv	2.0E-05	2.8E-05	1
rs1554147776	TMEM151B ; AARS2	1.000		6	44302810	missense variant	C/T	snv			1
rs1561938413	TMEM151B ; AARS2	1.000		6	44303404	missense variant	T/G	snv			1
rs200187887	TMEM151B ; AARS2	1.000		6	44307304	missense variant	G/A	snv	2.0E-05	1.4E-05	1
rs325010	TMEM151B ; AARS2	1.000	0.120	6	44300181	3 prime UTR variant	A/G	snv		0.88	1