DisGeNET - a database of gene-disease associations

List of shared variants

Blood Protein Measurement, C2985280

Disease: Low density lipoprotein cholesterol measurement

Source: GWASCAT ×

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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
rs3184504	SH2B3 ; ATXN2	0.572	0.600	12	111446804	missense variant	T/A;C;G	snv	0.67		61
rs1260326	GCKR	0.645	0.600	2	27508073	missense variant	T/C;G	snv	0.63; 4.0E-06	0.68	55
rs964184	ZPR1	0.716	0.440	11	116778201	3 prime UTR variant	G/C	snv		0.82	35
rs429358	APOE	0.590	0.600	19	44908684	missense variant	T/C	snv	0.14	0.16	26
rs7412	APOE	0.641	0.640	19	44908822	missense variant	C/T	snv	6.2E-02	7.9E-02	20
rs629301	CELSR2	0.851	0.120	1	109275684	3 prime UTR variant	G/T	snv		0.74	19
rs28929474	SERPINA1	0.708	0.320	14	94378610	missense variant	C/G;T	snv	2.8E-05; 1.1E-02		17
rs635634		0.882	0.160	9	133279427	upstream gene variant	T/A;C	snv			17
rs855791	TMPRSS6	0.701	0.400	22	37066896	missense variant	A/G;T	snv	0.57; 4.0E-06		17
rs2519093	ABO	0.882	0.200	9	133266456	intron variant	T/C	snv			14
rs495828		0.827	0.200	9	133279294	upstream gene variant	T/G	snv		0.81	11
rs516246	FUT2 ; LOC105447645	0.925	0.160	19	48702915	intron variant	C/T	snv	0.38	0.45	10
rs579459		0.752	0.320	9	133278724	upstream gene variant	C/T	snv		0.81	10
rs646776	CELSR2	0.752	0.240	1	109275908	downstream gene variant	C/T	snv		0.74	10
rs77542162	ABCA6	1.000	0.040	17	69085137	missense variant	A/G	snv	9.3E-03	1.0E-02	10
rs12740374	CELSR2	0.851	0.040	1	109274968	3 prime UTR variant	G/T	snv		0.22	9
rs4418728				10	93079967	downstream gene variant	G/T	snv		0.42	8
rs550057	ABO	0.925	0.080	9	133271182	intron variant	T/A;C	snv			7
rs679574	FUT2 ; LOC105447645	0.827	0.120	19	48702851	intron variant	C/G	snv		0.45	7
rs492602	LOC105447645 ; FUT2	0.925	0.120	19	48703160	synonymous variant	A/G	snv	0.38	0.45	6
rs507666	ABO	1.000	0.040	9	133273983	intron variant	A/G	snv			6
rs77303550	TXNL4B			16	72045758	intron variant	C/T	snv		0.19	6
rs1801689	APOH			17	66214462	missense variant	A/C;G	snv	4.0E-06; 2.4E-02; 4.8E-05		5
rs438811	APOC1			19	44913484	non coding transcript exon variant	C/T	snv		0.29	5
rs4665710				2	20998163	downstream gene variant	A/C	snv		0.76	5