DisGeNET - a database of gene-disease associations

List of associated variants

Serum total cholesterol measurement, C1445957

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
rs17789218	LOC105377911			6	100152221	intergenic variant	T/A;C	snv			3
rs11597086	CHUK			10	100193948	non coding transcript exon variant	A/C	snv	0.30	0.29	1
rs17883880	CHUK			10	100230590	intron variant	T/A	snv		1.2E-02	4
rs12784396	CWF19L1	0.925	0.040	10	100267650	5 prime UTR variant	C/A;T	snv			4
rs7955221				12	100456972	intergenic variant	A/C;T	snv			2
rs314311	EPHB4			7	100824859	non coding transcript exon variant	T/G	snv		0.17	1
rs1062062	TBC1D8 ; RPL31			2	101011463	missense variant	C/T	snv	9.8E-02	9.3E-02	1
rs10185855	TBC1D8			2	101025798	intron variant	A/G	snv		0.35	4
rs11224571	PGR			11	101047942	intron variant	C/A	snv		1.2E-02	3
rs7928851	PGR			11	101117160	intron variant	C/A	snv		1.7E-02	3
rs11571151	PGR-AS1 ; PGR			11	101127486	missense variant	C/G;T	snv			6
rs12097137				1	101243889	downstream gene variant	G/A;T	snv			3
rs12101753	PCSK6			15	101446855	intron variant	T/C	snv		4.3E-02	1
rs17199964	BANK1			4	101786634	intron variant	G/A;C	snv			5
rs6951245	C7orf50			7	1018557	intron variant	G/A	snv		0.12	2
rs28385681	IL1R2			2	102017062	intron variant	T/G	snv		1.4E-05	1
rs3917237	IL1R1			2	102155991	intron variant	G/A	snv		1.9E-02	1
rs13107325	SLC39A8	0.776	0.520	4	102267552	missense variant	C/A;T	snv	4.0E-06; 4.5E-02		34
rs13135092	SLC39A8			4	102276925	intron variant	A/G	snv		5.1E-02	4
rs13114738	SLC39A8	0.851	0.120	4	102363708	intron variant	C/A;T	snv			16
rs7952037				11	102379653	downstream gene variant	C/T	snv		1.9E-02	3
rs5030339	LOC105372272 ; ICAM1			19	10269461	intron variant	G/A	snv		3.4E-03	5
rs5030359	ICAM1			19	10277786	intron variant	G/A	snv		2.1E-03	3
rs7938449	MMP10 ; WTAPP1			11	102778167	intron variant	C/A;T	snv			1
rs2362529	C7orf50			7	1028270	synonymous variant	T/C	snv	0.15	0.23	1