DisGeNET - a database of gene-disease associations

List of associated variants

Acne, C0702166

Source: ALL

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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
rs1801282	PPARG	0.500	0.840	3	12351626	missense variant	C/G	snv	0.11	8.9E-02	131
rs1805192	PPARG	0.510	0.840	3	12379739	missense variant	C/G	snv			121
rs5743708	TLR2	0.525	0.800	4	153705165	missense variant	G/A	snv	1.7E-02	1.8E-02	98
rs1178187217	DNAH11	0.683	0.480	7	21600085	missense variant	G/A;T	snv	4.3E-06		38
rs201943194	DNAH11	0.683	0.480	7	21710596	stop gained	C/T	snv	8.5E-05	8.4E-05	38
rs7799039	LOC105375494	0.649	0.560	7	128238730	upstream gene variant	G/A;C	snv			33
rs1061622	TNFRSF1B	0.633	0.760	1	12192898	missense variant	T/G	snv	0.22	0.22	33
rs543860009	TTN-AS1 ; TTN	0.742	0.320	2	178589003	stop gained	G/A;T	snv			33
rs878854378	TTN ; TTN-AS1	0.742	0.320	2	178533657	inframe deletion	GTT/-	delins			33
rs10754558	NLRP3	0.695	0.480	1	247448734	3 prime UTR variant	G/C;T	snv			20
rs6428829	HSD3B1	0.925	0.040	1	119512118	intron variant	A/G	snv		0.78	2