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 GENOME	Num. diseases
rs10007186	LINC01094			4	78667891	intron variant	C/T	snv	0.65	2
rs1000778	FADS3	1.000	0.040	11	61887833	intron variant	A/G	snv	0.59	3
rs1001159				9	36728588	intergenic variant	C/T	snv	0.56	1
rs10018448	PPM1K-DT			4	88304019	intron variant	A/G	snv	0.58	1
rs10024717	PPM1K-DT			4	88298493	intron variant	G/A	snv	0.29	1
rs1002475	MFSD4B ; REV3L			6	111388386	intron variant	T/C	snv	0.39	1
rs1002687	DOCK7			1	62498066	intron variant	G/A	snv	0.57	1
rs10057473				5	143507813	intron variant	G/A;C	snv		1
rs1007205	DOCK7			1	62471241	intron variant	T/A;C;G	snv		1
rs1007995	LOC101927502			9	81757012	intron variant	A/G	snv	0.46	1
rs10095723	ENTPD4 ; LOXL2			8	23385810	3 prime UTR variant	T/C	snv	8.0E-02	1
rs10096495	LOXL2 ; ENTPD4			8	23388270	intron variant	C/T	snv	8.7E-02	1
rs10096633		1.000	0.040	8	19973410	regulatory region variant	C/T	snv	0.22	8
rs1010278				8	57641227	intron variant	A/C;T	snv		1
rs10115200				9	81451095	intergenic variant	T/C	snv	7.4E-02	1
rs1011685				8	19973258	regulatory region variant	C/T	snv	8.7E-02	1
rs10118133	LOC101927502			9	81752279	intron variant	A/G	snv	0.46	1
rs10120450	PTPRD			9	8826588	intron variant	T/C	snv	0.58	1
rs10120501	PTPRD			9	8826767	intron variant	T/A;C	snv		1
rs10121203	PTPRD			9	8833227	intron variant	A/C;G	snv		1
rs10121993	PIP5K1B			9	68713462	intron variant	G/A	snv	0.70	1
rs10130589	LOC728755			14	27506611	intron variant	G/C	snv	0.39	1
rs10132646	LOC728755			14	27496715	intron variant	T/A;C	snv		1
rs10132835	LOC728755			14	27510351	intron variant	A/T	snv	0.39	1
rs10137892	LOC728755			14	27496260	intron variant	G/A	snv	0.43	1