DisGeNET - a database of gene-disease associations

List of shared variants

Hyperlipoproteinemia Type IIa, C0745103

Disease: Dyslipidemias

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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs1799983	NOS3	0.430	0.880	7	150999023	missense variant	T/A;G	snv	0.75		246
rs662	PON1	0.485	0.840	7	95308134	missense variant	T/C	snv	0.38	0.42	157
rs429358	APOE	0.590	0.600	19	44908684	missense variant	T/C	snv	0.14	0.16	66
rs7412	APOE	0.641	0.640	19	44908822	missense variant	C/T	snv	6.2E-02	7.9E-02	47
rs268	LPL	0.637	0.480	8	19956018	missense variant	A/G	snv	1.3E-02	1.3E-02	41
rs693	APOB	0.708	0.440	2	21009323	synonymous variant	G/A	snv	0.39	0.38	24
rs137852912	PCSK9	0.776	0.120	1	55057454	missense variant	G/A;C;T	snv	7.2E-05		10
rs374603772	PCSK9	0.776	0.160	1	55058630	missense variant	C/T	snv	4.4E-05	2.8E-05	9
rs769455	APOE	0.827	0.120	19	44908783	missense variant	C/T	snv	1.4E-03	6.9E-03	8
rs28942111	PCSK9	0.807	0.120	1	55044016	missense variant	T/A	snv			7
rs9370867	MYLIP	0.827	0.120	6	16145094	missense variant	A/G	snv	0.60	0.63	7
rs544453230	LDLR	0.882	0.080	19	11110714	missense variant	G/A;C	snv	2.8E-05; 4.0E-06		6
rs730882082	LDLR	0.882	0.080	19	11105315	missense variant	G/A;T	snv	1.6E-05		5
rs879254535	LDLR	0.925	0.080	19	11105369	missense variant	T/A;C;G	snv			5
rs1057519655	LDLR	1.000	0.080	19	11105516	missense variant	T/C;G	snv	4.0E-06		2