DisGeNET - a database of gene-disease associations

List of shared variants

Triglycerides measurement, C0202236

Disease: Low density lipoprotein cholesterol measurement

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
rs651821	APOA5	0.851	0.360	11	116791863	5 prime UTR variant	C/T	snv	0.88	0.89	17
rs2642438	MTARC1			1	220796686	missense variant	A/G	snv	0.75	0.78	6
rs1042034	APOB	0.851	0.240	2	21002409	missense variant	C/T	snv	0.70	0.78	15
rs1553318	HAVCR1			5	157052312	intron variant	G/A;C	snv	6.2E-03; 0.67		3
rs1260326	GCKR	0.645	0.600	2	27508073	missense variant	T/C;G	snv	0.63; 4.0E-06	0.68	81
rs721772	RPAP1			15	41537032	synonymous variant	A/G	snv	0.48	0.42	4
rs174554	FADS1 ; FADS2	1.000	0.080	11	61811991	intron variant	A/G	snv	0.40	0.28	7
rs693	APOB	0.708	0.440	2	21009323	synonymous variant	G/A	snv	0.39	0.38	24
rs1041968	APOB			2	21009932	synonymous variant	G/A	snv	0.39	0.38	6
rs492602	LOC105447645 ; FUT2	0.925	0.120	19	48703160	synonymous variant	A/G	snv	0.38	0.45	7
rs516246	FUT2 ; LOC105447645	0.925	0.160	19	48702915	intron variant	C/T	snv	0.38	0.45	10
rs174535	MYRF ; TMEM258	0.776	0.280	11	61783884	missense variant	T/A;C;G	snv	0.38	0.32	19
rs35866622	MAMSTR			19	48714803	splice region variant	C/T	snv	0.34	0.32	3
rs3850634	DOCK7			1	62584927	intron variant	T/G	snv	0.33	0.34	4
rs676210	APOB	0.925	0.120	2	21008652	missense variant	G/A;T	snv	0.29		12
rs17231506	CETP	0.851	0.040	16	56960616	upstream gene variant	C/G;T	snv	0.28		10
rs611917	CELSR2	1.000	0.040	1	109272630	non coding transcript exon variant	A/G	snv	0.28	0.32	5
rs1367117	APOB	1.000	0.080	2	21041028	missense variant	G/A	snv	0.26	0.24	8
rs4970834	CELSR2	0.925	0.160	1	109272258	intron variant	C/T	snv	0.17	0.21	8
rs1800978	ABCA1	1.000	0.040	9	104903697	5 prime UTR variant	C/A;G;T	snv	5.4E-06; 0.14		6
rs429358	APOE	0.590	0.600	19	44908684	missense variant	T/C	snv	0.14	0.16	66
rs2075650	TOMM40	0.662	0.360	19	44892362	intron variant	A/G	snv	0.13	0.13	45
rs2278426	ANGPTL8 ; DOCK6	1.000	0.080	19	11239812	missense variant	C/T	snv	0.11	0.11	11
rs283813	NECTIN2	1.000	0.080	19	44885917	intron variant	T/A	snv	0.11	0.16	6
rs58542926	TM6SF2	0.630	0.440	19	19268740	missense variant	C/T	snv	6.5E-02	5.8E-02	42