DisGeNET - a database of gene-disease associations

List of associated variants

Retrosternal pain, C0151826

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
rs268	LPL	0.637	0.480	8	19956018	missense variant	A/G	snv	1.3E-02	1.3E-02	41
rs118204057	LPL	0.732	0.400	8	19954222	missense variant	G/A;C	snv	1.9E-04		16
rs118204060	LPL	0.807	0.160	8	19954279	missense variant	C/T	snv	4.0E-05	1.4E-05	9
rs879254642	LDLR	0.882	0.120	19	11105589	missense variant	A/C;G	snv			6
rs879254851	LDLR ; MIR6886	0.882	0.120	19	11113368	missense variant	T/C	snv			6
rs200353509	APOB	0.882	0.120	2	21035701	missense variant	G/A;C;T	snv	4.0E-06; 6.0E-05		4
rs753248521	LDLR ; MIR6886	0.882	0.120	19	11111523	missense variant	A/G	snv	4.0E-06		4