DisGeNET - a database of gene-disease associations

List of associated variants

Dyslipidemias, C0242339

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
rs3816873	MTTP	0.790	0.200	4	99583507	missense variant	T/C	snv	0.25	0.26	9
rs2297322	SLC15A1	1.000	0.040	13	98723927	missense variant	C/G;T	snv	0.22		4
rs1289389	SLC15A1			13	98684036	3 prime UTR variant	C/T	snv		0.18	2
rs662	PON1	0.485	0.840	7	95308134	missense variant	T/C	snv	0.38	0.42	157
rs3758539	FFAR4 ; RBP4	0.925	0.120	10	93601831	intron variant	C/T	snv		0.13	4
rs1049353	CNR1	0.630	0.600	6	88143916	synonymous variant	C/T	snv	0.21	0.20	42
rs2241883	FABP1	0.763	0.360	2	88124547	missense variant	T/C	snv	0.30	0.29	14
rs1984112	CD36	0.807	0.280	7	80613604	intron variant	A/G	snv		0.33	8
rs1211098985	MTRR	1.000	0.040	5	7878128	missense variant	T/C;G	snv	4.0E-06		3
rs1801394	FASTKD3 ; MTRR	0.531	0.840	5	7870860	missense variant	A/G	snv	0.47	0.45	101
rs12953258	SOCS3 ; LOC101928674	1.000	0.080	17	78360015	5 prime UTR variant	T/A;G	snv			2
rs762304200	SHBG			17	7630716	synonymous variant	A/G	snv		2.8E-05	2
rs3060	DGAT2			11	75800527	3 prime UTR variant	T/C	snv	0.14	0.22	1
rs78338345	GGA3	1.000	0.080	17	75242428	missense variant	C/G	snv	7.7E-03	2.5E-03	2
rs1685354	UCP3			11	74002546	intron variant	A/G	snv		0.30	1
rs3812316	MLXIPL	0.763	0.240	7	73606007	missense variant	C/G	snv	0.10	9.4E-02	14
rs2292318	SLC12A4	0.925	0.120	16	67951803	intron variant	C/A;T	snv	0.15		5
rs8179183	LEPR	1.000	0.080	1	65610269	missense variant	G/C;T	snv			3
rs1137101	LEPR	0.554	0.760	1	65592830	missense variant	A/G	snv	0.51	0.50	77
rs66698963	FADS2			11	61835025	intron variant	ACTTCTCCCTGCCTCCCCAGGGACTTCTCCCTGCCTCCCCAGGG/-;ACTTCTCCCTGCCTCCCCAGGG	delins		0.56	1
rs174547	FADS2 ; FADS1	0.742	0.240	11	61803311	intron variant	T/C	snv		0.28	33
rs773641005	GOT2	0.742	0.240	16	58723829	missense variant	T/C	snv			14
rs56225452	SLC27A5 ; LOC105372486 ; ZBTB45	0.851	0.080	19	58513279	upstream gene variant	C/T	snv		0.18	5
rs2070895	LIPC ; ALDH1A2	0.807	0.120	15	58431740	intron variant	G/A	snv		0.33	15
rs1800588	ALDH1A2 ; LIPC	0.790	0.200	15	58431476	intron variant	C/G;T	snv	0.30		16