DisGeNET - a database of gene-disease associations

List of associated variants

Atherogenic dyslipidaemia, C4524040

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
rs7903146	TCF7L2	0.554	0.680	10	112998590	intron variant	C/G;T	snv			93
rs268	LPL	0.637	0.480	8	19956018	missense variant	A/G	snv	1.3E-02	1.3E-02	41
rs662799	APOA5	0.689	0.480	11	116792991	upstream gene variant	G/A	snv		0.90	33
rs3135506	APOA5	0.708	0.400	11	116791691	missense variant	G/A;C	snv	3.0E-05; 6.8E-02		26
rs328	LPL	0.732	0.440	8	19962213	stop gained	C/G	snv	9.2E-02	9.0E-02	19
rs2281997	ENHO	0.882	0.240	9	34521869	intron variant	T/A;C	snv			5
rs4149263	ABCA1	0.925	0.080	9	104915008	intron variant	A/G	snv		0.18	2
rs118204078	LPL	0.925	0.080	8	19960935	missense variant	C/G	snv			2
rs2020927	ABCA1	1.000		9	104790904	intron variant	A/G	snv	0.18	0.24	1