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
rs1540273	SLC17A2	0.925	0.120	6	25923930	intron variant	T/C	snv	0.42	0.34	4
rs1865760	SLC17A2	0.925	0.120	6	25916751	synonymous variant	C/T	snv	0.42	0.34	4
rs2071297	SLC17A2	0.925	0.120	6	25924285	intron variant	G/C	snv		0.34	4
rs2071301	SLC17A2	0.925	0.120	6	25914035	intron variant	C/A	snv		0.34	4
rs3734523	SLC17A2	0.882	0.120	6	25925759	intron variant	G/A	snv	7.5E-02	0.11	4
rs3752421	SLC17A2	0.925	0.120	6	25918460	intron variant	G/A;C	snv	0.42; 4.0E-06		4
rs3799371	SLC17A2	0.925	0.120	6	25912588	downstream gene variant	C/T	snv		0.34	4
rs3799372	SLC17A2	0.925	0.120	6	25922083	intron variant	A/G	snv		0.34	4
rs3799373	SLC17A2	0.925	0.120	6	25928945	intron variant	A/C;T	snv			4
rs6932113	SLC17A2	0.925	0.120	6	25912870	3 prime UTR variant	C/T	snv		0.34	4
rs6938233	SLC17A2	0.925	0.120	6	25913849	intron variant	C/T	snv		0.34	4
rs9358893	SLC17A2	0.925	0.120	6	25921533	intron variant	A/G	snv		0.34	4
rs9467636	SLC17A2	0.925	0.120	6	25919321	intron variant	A/C	snv		0.34	4
rs13195279	SLC17A2	0.925	0.120	6	25919203	intron variant	T/A	snv		7.4E-02	3
rs17586553	SLC17A2	0.925	0.120	6	25928547	intron variant	G/A;C	snv			3
rs199741	SLC17A2	0.925	0.120	6	25931349	upstream gene variant	A/G	snv		0.81	3
rs7749342	SLC17A2	0.925	0.120	6	25920037	intron variant	T/A;C	snv			3
rs7770139	SLC17A2	0.925	0.120	6	25925595	intron variant	A/C;G	snv			3
rs10484431	SLC17A2	0.925	0.120	6	25926446	intron variant	A/G	snv		0.17	2
rs17526722	SLC17A2	0.925	0.120	6	25918627	intron variant	G/A	snv		4.6E-02	2
rs9295675	SLC17A2	0.925	0.120	6	25918245	intron variant	C/T	snv		0.11	2