DisGeNET - a database of gene-disease associations

Source: GWASCAT

Variants associated to the Gene: ATXN2 ×

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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
rs3184504	SH2B3 ; ATXN2	0.572	0.600	12	111446804	missense variant	T/A;C;G	snv	0.67		61
rs653178	ATXN2	0.672	0.600	12	111569952	intron variant	C/T	snv		0.67	23
rs597808	ATXN2	0.742	0.200	12	111535554	intron variant	A/G	snv		0.67	19
rs7137828	ATXN2	0.763	0.200	12	111494996	intron variant	C/A;T	snv			14
rs10774625	ATXN2	0.763	0.320	12	111472415	intron variant	A/G	snv		0.66	7
rs4766578	ATXN2	0.851	0.200	12	111466567	intron variant	T/A	snv		0.66	4
rs739496	SH2B3 ; ATXN2	0.790	0.160	12	111449855	3 prime UTR variant	A/G	snv		0.27	3
rs619010	ATXN2			12	111537019	intron variant	A/G	snv		0.37	1
rs11348701	ATXN2			12	111452430	3 prime UTR variant	TTTT/-;T;TT;TTT;TTTTT;TTTTTT	delins		0.31	1
rs145618127	ATXN2			12	111594766	intron variant	T/C	snv		1.2E-02	1
rs615134	ATXN2			12	111565891	intron variant	T/A;G	snv			1
rs35350651	ATXN2	1.000	0.120	12	111469627	3 prime UTR variant	-/C	ins		0.66	1
rs2238153	ATXN2			12	111501743	intron variant	G/A	snv		2.4E-02	1
rs11065961	ATXN2			12	111585263	intron variant	G/A	snv		0.57	1
rs148636776	ATXN2 ; SH2B3	0.790	0.280	12	111447491	missense variant	G/A	snv	1.5E-04	2.4E-04	1
rs11065904	SH2B3 ; ATXN2	0.882	0.080	12	111449163	3 prime UTR variant	T/A	snv		3.2E-02	1