DisGeNET - a database of gene-disease associations

List of shared variants

Serum LDL cholesterol measurement, C0428474

Disease: Coronary heart disease

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
rs157580	TOMM40	0.882	0.160	19	44892009	intron variant	G/A	snv		0.69	14
rs16996148		0.882	0.120	19	19547663	downstream gene variant	G/T	snv		0.10	8
rs2075650	TOMM40	0.662	0.360	19	44892362	intron variant	A/G	snv	0.13	0.13	45
rs2228671	LDLR	0.790	0.160	19	11100236	stop gained	C/A;G;T	snv	1.6E-05; 8.9E-02		14
rs4420638	APOC1	0.708	0.520	19	44919689	downstream gene variant	A/G	snv		0.18	43
rs4803750	BCL3	0.807	0.240	19	44744370	upstream gene variant	A/G	snv		7.7E-02	22
rs6511720	LDLR	0.790	0.120	19	11091630	intron variant	G/T	snv		0.12	15
rs6859	NECTIN2	0.827	0.120	19	44878777	3 prime UTR variant	A/G	snv		0.58	10
rs688	LDLR	0.742	0.400	19	11116926	synonymous variant	C/T	snv	0.39	0.34	16
rs7412	APOE	0.641	0.640	19	44908822	missense variant	C/T	snv	6.2E-02	7.9E-02	47
rs6102059	LOC102724968	1.000	0.040	20	40600144	intergenic variant	C/T	snv		0.33	3
rs5031002	AR	1.000	0.040	X	67722783	intron variant	G/A	snv	1.5E-02	1.5E-02	3