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
rs1571583	GLIS3			9	4267209	intron variant	A/G	snv		0.77	2
rs6415788	GLIS3			9	4118111	missense variant	G/T	snv	0.67	0.62	4
rs10814916	GLIS3	0.851	0.200	9	4293150	intron variant	A/C	snv		0.57	2
rs10758594	GLIS3	0.925	0.040	9	4295583	intron variant	A/G	snv		0.45	2
rs10758593	GLIS3	0.827	0.240	9	4292083	intron variant	G/A	snv		0.45	1
rs10974399	GLIS3			9	4232588	intron variant	G/T	snv		0.40	1
rs10114763	GLIS3	1.000	0.040	9	4143749	intron variant	A/T	snv		0.39	1
rs7026684	GLIS3			9	4215308	intron variant	G/A	snv		0.39	1
rs7041847	GLIS3	1.000	0.080	9	4287466	intron variant	A/G	snv		0.37	1
rs12336359	GLIS3			9	4129657	intron variant	G/C	snv		0.37	1
rs7872188	GLIS3			9	4124377	intron variant	C/T	snv		0.36	1
rs4258054	LOC107986989 ; GLIS3	1.000	0.080	9	4297892	intron variant	T/C	snv		0.33	1
rs7047871	GLIS3			9	4050113	intron variant	T/A	snv		0.30	1
rs10974438	GLIS3	0.925	0.120	9	4291928	intron variant	A/C	snv		0.29	3
rs10974406	GLIS3			9	4237041	intron variant	T/C	snv		0.29	1
rs2224492	GLIS3			9	4237546	intron variant	A/G	snv		0.25	1
rs1570204	GLIS3			9	4216751	intron variant	T/C	snv		0.25	1
rs6476827	GLIS3			9	4220832	intron variant	C/G	snv		0.24	1
rs10119187	GLIS3			9	4223660	intron variant	T/C;G	snv		0.22	1
rs13301469	GLIS3	1.000	0.040	9	3911353	intron variant	C/G	snv		0.17	1
rs12348139	GLIS3			9	4232743	intron variant	T/C	snv		7.9E-02	1
rs7034200	GLIS3	1.000	0.080	9	4289050	intron variant	C/A;G	snv			3
rs1570203	GLIS3			9	4120648	intron variant	G/A;C	snv			2
rs10116772	GLIS3	0.882	0.080	9	4290541	intron variant	C/A;T	snv			2
rs57884925	GLIS3			9	4285119	intron variant	C/G;T	snv			2