DisGeNET - a database of gene-disease associations

Source: BEFREE

Variants associated to the Disease: Diabetes Mellitus, Non-Insulin-Dependent ×

Variants associated to the Gene: PPARGC1A ×

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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
rs8192678	PPARGC1A	0.667	0.440	4	23814039	missense variant	C/T	snv	0.31	0.26	28
rs3736265	PPARGC1A	0.790	0.360	4	23813084	missense variant	G/A;T	snv	8.6E-02; 2.8E-05		7
rs2970847	PPARGC1A	0.882	0.200	4	23814301	synonymous variant	T/C	snv	0.84	0.86	3
rs10212638	PPARGC1A	1.000	0.080	4	23864492	intron variant	A/G	snv		0.11	1
rs10517030	PPARGC1A	0.925	0.120	4	23961283	intergenic variant	A/C	snv		6.9E-02	1
rs10517032	PPARGC1A	0.925	0.120	4	23966759	regulatory region variant	C/A	snv		5.4E-02	1
rs4235308	PPARGC1A	1.000	0.080	4	23862789	intron variant	T/C	snv		0.40	1
rs7656250	PPARGC1A	1.000	0.080	4	23864393	intron variant	C/A;T	snv			1