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
rs13107325	SLC39A8	0.776	0.520	4	102267552	missense variant	C/A;T	snv	4.0E-06; 4.5E-02		34
rs4146429				10	102641875	upstream gene variant	T/C	snv		0.10	2
rs2777795	ABCA1			9	104910084	intron variant	G/A	snv		8.8E-02	4
rs11156429	LIN28B-AS1			6	104916546	intron variant	T/G	snv		0.46	1
rs7759938	LIN28B-AS1	0.925	0.120	6	104931079	intron variant	C/T	snv		0.62	7
rs395962	LIN28B			6	104949543	intron variant	T/G	snv		0.72	6
rs7032974	LINC01505			9	106156346	intron variant	T/C	snv		0.30	1
rs7020666	LINC01505			9	106163165	intron variant	C/T	snv		0.31	1
rs7874161	ZNF462			9	106876781	intron variant	C/T	snv		0.41	1
rs25981	EFNA5			5	107487207	intron variant	G/C	snv		0.60	1
rs40067	FBXL17			5	108103311	intron variant	G/A;T	snv			2
rs2764261	FOXO3			6	108606639	intron variant	A/G;T	snv			3
rs3800229	FOXO3	1.000	0.040	6	108675760	intron variant	G/T	snv		0.54	4
rs7550711	GPR61			1	109540264	intron variant	C/T	snv		2.6E-02	3
rs17024393	GNAT2			1	109612066	intron variant	T/C	snv		4.6E-02	4
rs3790606	WNT2B			1	112509564	intron variant	G/C	snv		0.26	1
rs7903146	TCF7L2	0.554	0.680	10	112998590	intron variant	C/G;T	snv			93
rs1928295				9	117616205	intergenic variant	T/C	snv		0.45	3
rs7513580				1	118307286	intergenic variant	G/A	snv		0.30	1
rs12731372				1	118310352	regulatory region variant	C/T	snv		0.19	3
rs7536458				1	118321979	intergenic variant	T/G	snv		0.23	5
rs984222	TBX15			1	118961220	intron variant	C/A;G	snv			3
rs10923712	TBX15			1	118962811	intron variant	G/A	snv		0.56	4
rs10923724				1	119004219	upstream gene variant	C/T	snv		0.53	3
rs2645294	WARS2			1	119031964	3 prime UTR variant	C/T	snv		0.59	4