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
rs10038095	HMGCR			5	75341886	intron variant	A/T	snv		0.38	3
rs10045497	HMGCR			5	75340659	intron variant	C/A	snv		0.35	2
rs10054063				5	173965395	downstream gene variant	A/T	snv		0.26	4
rs10066168	HAVCR1			5	157057207	intron variant	C/G;T	snv			2
rs1006725	TCF7L2			10	112970444	intron variant	A/G	snv		4.2E-03	2
rs10087178	MSRA			8	10111284	intron variant	T/C	snv		6.6E-02	2
rs10102164	RP1			8	54509054	upstream gene variant	G/A	snv		0.19	4
rs10104003	RP1			8	54509880	intron variant	C/T	snv		0.19	1
rs10107815	MSRA			8	10156645	intron variant	G/C	snv		5.1E-02	4
rs10128711	SPTY2D1			11	18611437	intron variant	T/C	snv	0.64	0.55	2
rs1014283	ABCB4			7	87447271	intron variant	C/A;T	snv			2
rs10156121				7	142672656	downstream gene variant	T/C	snv		3.9E-02	4
rs1016988				5	132408882	upstream gene variant	T/C	snv		0.20	4
rs10172650				2	20982585	intergenic variant	G/A	snv		0.28	2
rs10176901	ABCB11			2	168974151	intron variant	G/A	snv		0.57	2
rs10185855	TBC1D8			2	101025798	intron variant	A/G	snv		0.35	4
rs10199768	APOB			2	21021128	intron variant	G/T	snv		0.35	5
rs10212320	TGFBR2			3	30632373	non coding transcript exon variant	C/T	snv		7.2E-03	2
rs102275	TMEM258	0.827	0.320	11	61790331	non coding transcript exon variant	T/C	snv		0.47	18
rs10260606				7	44544952	upstream gene variant	G/A;C	snv			3
rs10271556	NAMPT			7	106258428	intron variant	C/T	snv		5.6E-02	4
rs10275712	GPR146 ; C7orf50			7	1043282	intron variant	G/A	snv		0.18	1
rs1030431				8	58399138	intergenic variant	A/G;T	snv			3
rs10306121	PTGS1			9	122372369	intron variant	A/T	snv		6.5E-02	2
rs10306137	PTGS1			9	122376185	intron variant	C/T	snv		1.8E-02	3