DisGeNET - a database of gene-disease associations

List of associated variants

Serum total cholesterol measurement, C1445957

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
rs1800562	LOC108783645 ; HFE	0.435	0.880	6	26092913	missense variant	G/A	snv	3.3E-02	3.8E-02	18
rs1801274	FCGR2A	0.597	0.800	1	161509955	missense variant	A/C;G	snv	4.0E-06; 0.48		7
rs77375493	INSL6 ; JAK2	0.458	0.760	9	5073770	missense variant	G/A;T	snv	3.5E-04		3
rs9939609	FTO	0.559	0.720	16	53786615	intron variant	T/A	snv		0.41	18
rs738409	PNPLA3	0.557	0.720	22	43928847	missense variant	C/G	snv	0.28	0.22	11
rs7412	APOE	0.641	0.640	19	44908822	missense variant	C/T	snv	6.2E-02	7.9E-02	20
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
rs429358	APOE	0.590	0.600	19	44908684	missense variant	T/C	snv	0.14	0.16	26
rs653178	ATXN2	0.672	0.600	12	111569952	intron variant	C/T	snv		0.67	23
rs4420638	APOC1	0.708	0.520	19	44919689	downstream gene variant	A/G	snv		0.18	30
rs13107325	SLC39A8	0.776	0.520	4	102267552	missense variant	C/A;T	snv	4.0E-06; 4.5E-02		24
rs1333049	CDKN2B-AS1	0.614	0.520	9	22125504	intron variant	G/C	snv		0.41	18
rs662799	APOA5	0.689	0.480	11	116792991	upstream gene variant	G/A	snv		0.90	4
rs405509	APOE	0.667	0.480	19	44905579	upstream gene variant	T/G	snv		0.58	1
rs964184	ZPR1	0.716	0.440	11	116778201	3 prime UTR variant	G/C	snv		0.82	35
rs2266788	APOA5 ; ZPR1	0.763	0.440	11	116789970	3 prime UTR variant	G/A	snv		0.93	6
rs58542926	TM6SF2	0.630	0.440	19	19268740	missense variant	C/T	snv	6.5E-02	5.8E-02	5
rs693	APOB	0.708	0.440	2	21009323	synonymous variant	G/A	snv	0.39	0.38	4
rs328	LPL	0.732	0.440	8	19962213	stop gained	C/G	snv	9.2E-02	9.0E-02	3
rs780094	GCKR	0.658	0.400	2	27518370	intron variant	T/C	snv		0.67	35
rs3135506	APOA5	0.708	0.400	11	116791691	missense variant	G/A;C	snv	3.0E-05; 6.8E-02		3
rs688	LDLR	0.742	0.400	19	11116926	synonymous variant	C/T	snv	0.39	0.34	2
rs2075650	TOMM40	0.662	0.360	19	44892362	intron variant	A/G	snv	0.13	0.13	12
rs651821	APOA5	0.851	0.360	11	116791863	5 prime UTR variant	C/T	snv	0.88	0.89	10