DisGeNET - a database of gene-disease associations

List of associated variants

Hypercholesterolemia, Familial, C0020445

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
rs10455872	LPA	0.662	0.320	6	160589086	intron variant	A/G	snv		4.3E-02	33
rs17321515		0.776	0.200	8	125474167	intron variant	A/G	snv		0.49	16
rs11613352	R3HDM2	0.827	0.160	12	57398797	intron variant	C/T	snv		0.19	9
rs1333047	CDKN2B-AS1	0.790	0.240	9	22124505	intron variant	A/T	snv		0.63	9
rs12526453	PHACTR1	0.827	0.160	6	12927312	intron variant	C/G	snv		0.27	5
rs2048327	SLC22A3	0.851	0.120	6	160442500	intron variant	T/C	snv		0.28	5
rs1529711	CARM1	1.000	0.080	19	10912758	intron variant	C/T	snv		0.13	4
rs765696008	MIR6886 ; LDLR	0.925	0.080	19	11113268	intron variant	G/A;C	snv	2.8E-05; 4.0E-06		4
rs12720762	APOB	0.925	0.080	2	21043787	intron variant	C/G	snv		4.8E-03	2
rs2967890	FARSA ; FARSA-AS1	1.000	0.080	19	12929833	intron variant	G/A	snv		0.82	2
rs587776886	LDLR	0.925	0.080	19	11120608	intron variant	C/G;T	snv			2
rs8112449	CDC37	0.925	0.160	19	10409388	intron variant	G/A	snv		0.31	2
rs879254734	LDLR	0.925	0.080	19	11110640	intron variant	G/A	snv			2
rs10405652	ZNF561-AS1	1.000	0.080	19	9630447	intron variant	G/T	snv		0.13	1
rs10411082	ZNF561-AS1	1.000	0.080	19	9630540	intron variant	G/A	snv		0.31	1
rs10415132	ZNF846	1.000	0.080	19	9752807	intron variant	G/A	snv		0.37	1
rs10418705	ZNF562	1.000	0.080	19	9658249	intron variant	A/G	snv		0.27	1
rs10422772	ZNF561	1.000	0.080	19	9612747	intron variant	C/T	snv		0.13	1
rs12610507	ZNF563	1.000	0.080	19	12325596	intron variant	A/C	snv		0.22	1
rs16042	CACNA1A	1.000	0.080	19	13230223	intron variant	G/A	snv	0.20	0.16	1
rs2033483	ZNF317	1.000	0.080	19	9143666	intron variant	A/G	snv		7.3E-02	1
rs286262	ZNF823	1.000	0.080	19	11736800	intron variant	G/A;C	snv			1
rs313624	PRKCSH	1.000	0.080	19	11442095	intron variant	A/G	snv		0.63	1
rs370245937	LDLR	1.000	0.080	19	11117009	intron variant	C/G;T	snv	2.4E-05		1
rs3745264	RAVER1	1.000	0.080	19	10318890	intron variant	C/A;G	snv			1