DisGeNET - a database of gene-disease associations

List of shared variants

Triglycerides measurement, C0202236

Disease: Metabolic Syndrome X

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
rs9987289	LOC157273	1.000	0.040	8	9325848	non coding transcript exon variant	A/G	snv		0.87	10
rs116843064	ANGPTL4	0.776	0.160	19	8364439	missense variant	G/A	snv	1.3E-02	1.5E-02	16
rs1535	FADS2	0.752	0.240	11	61830500	intron variant	A/G	snv		0.31	24
rs174547	FADS2 ; FADS1	0.742	0.240	11	61803311	intron variant	T/C	snv		0.28	33
rs174546	FADS1 ; FADS2	0.807	0.200	11	61802358	3 prime UTR variant	C/T	snv		0.28	17
rs102275	TMEM258	0.827	0.320	11	61790331	non coding transcript exon variant	T/C	snv		0.47	18
rs1532085	ALDH1A2	0.882	0.080	15	58391167	intron variant	A/G;T	snv			13
rs2043085	ALDH1A2	0.827	0.080	15	58388755	intron variant	T/C	snv		0.54	9
rs10468017	ALDH1A2	0.851	0.120	15	58386313	intron variant	C/T	snv		0.24	12
rs5882	CETP	0.649	0.400	16	56982180	missense variant	G/A;C	snv	0.62		35
rs1864163	CETP	0.882	0.120	16	56963321	intron variant	G/A	snv		0.26	10
rs711752	CETP	1.000	0.040	16	56962299	splice region variant	G/A;C	snv			10
rs1800775	CETP	0.790	0.240	16	56961324	upstream gene variant	C/A;G	snv	0.51; 5.7E-06		18
rs3764261		0.732	0.280	16	56959412	upstream gene variant	C/A	snv		0.31	26
rs247617		0.827	0.160	16	56956804	regulatory region variant	C/A	snv		0.29	20
rs173539		0.882	0.080	16	56954132	intergenic variant	C/T	snv		0.33	11
rs9939609	FTO	0.559	0.720	16	53786615	intron variant	T/A	snv		0.41	98
rs7412	APOE	0.641	0.640	19	44908822	missense variant	C/T	snv	6.2E-02	7.9E-02	47
rs429358	APOE	0.590	0.600	19	44908684	missense variant	T/C	snv	0.14	0.16	66
rs405509	APOE	0.667	0.480	19	44905579	upstream gene variant	T/G	snv		0.58	30
rs157582	TOMM40	0.851	0.160	19	44892962	intron variant	C/T	snv	0.24	0.29	8
rs3749147	GPN1 ; CCDC121	0.882	0.120	2	27629051	missense variant	G/A	snv	0.23	0.20	8
rs13022873	ZNF512	0.882	0.120	2	27592643	intron variant	A/C;T	snv			7
rs1919128	C2orf16	0.882	0.120	2	27578892	missense variant	A/G	snv	0.30	0.24	8
rs780092	GCKR	0.827	0.160	2	27520287	intron variant	A/G	snv		0.18	10