DisGeNET - a database of gene-disease associations

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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
rs593226	ATXN2			12	111556082	intron variant	A/G	snv		0.43	1
rs2339816	ATXN2			12	111474384	intron variant	T/C	snv		0.20	1
rs2301621	ATXN2			12	111457468	non coding transcript exon variant	C/T	snv		0.20	1
rs628825	ATXN2			12	111514046	intron variant	C/T	snv		0.37	1
rs2301622	ATXN2			12	111457399	non coding transcript exon variant	C/G;T	snv	0.34		1
rs2239195	ATXN2 ; SH2B3			12	111443505	3 prime UTR variant	G/T	snv		0.20	1
rs1029388	ATXN2			12	111489097	intron variant	T/C	snv		0.38	1
rs12369009	ATXN2			12	111581995	intron variant	G/T	snv		0.63	1
rs2073950	ATXN2			12	111456268	intron variant	C/T	snv	0.21	0.20	1
rs688812	ATXN2			12	111524777	intron variant	C/T	snv		0.20	1
rs616559	ATXN2			12	111565546	intron variant	T/C	snv		0.31	1
rs648997	ATXN2			12	111538972	intron variant	C/G;T	snv			1
rs638791	ATXN2			12	111551432	intron variant	A/G	snv		0.20	1
rs625093	ATXN2			12	111550628	intron variant	A/G	snv		0.20	1
rs6490162	ATXN2			12	111503316	intron variant	T/C	snv		0.32	1
rs616668	ATXN2			12	111536476	intron variant	T/A;C;G	snv			1
rs630512	ATXN2			12	111514363	intron variant	C/T	snv		0.37	1
rs10849949	ATXN2			12	111455733	3 prime UTR variant	A/G	snv		0.38	1
rs657197	ATXN2			12	111527854	intron variant	C/A;T	snv			1
rs607316	ATXN2			12	111531644	intron variant	C/T	snv		0.31	1
rs616513	ATXN2			12	111565579	intron variant	G/A;T	snv			1
rs695871	ATXN2-AS ; ATXN2	1.000	0.080	12	111599196	missense variant	G/C	snv	0.77	0.61	1
rs2238154	SH2B3 ; ATXN2	0.882	0.080	12	111444681	intron variant	C/A;G	snv			1
rs739496	SH2B3 ; ATXN2	0.790	0.160	12	111449855	3 prime UTR variant	A/G	snv		0.27	3
rs4766578	ATXN2	0.851	0.200	12	111466567	intron variant	T/A	snv		0.66	5