DisGeNET - a database of gene-disease associations

List of shared variants

Uric acid measurement (procedure), C0202239

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
rs1260326	GCKR	0.645	0.600	2	27508073	missense variant	T/C;G	snv	0.63; 4.0E-06	0.68	81
rs780094	GCKR	0.658	0.400	2	27518370	intron variant	T/C	snv		0.67	62
rs653178	ATXN2	0.672	0.600	12	111569952	intron variant	C/T	snv		0.67	41
rs780093	GCKR	0.763	0.240	2	27519736	intron variant	T/C	snv		0.68	30
rs79105258	CUX2			12	111280427	intron variant	C/A;T	snv			24
rs1169288	HNF1A-AS1 ; HNF1A	0.776	0.160	12	120978847	missense variant	A/C;T	snv	0.35		21
rs1800961	HNF4A	0.851	0.160	20	44413724	missense variant	C/T	snv	3.1E-02	2.5E-02	21
rs17696736	NAA25	0.827	0.240	12	112049014	intron variant	A/G	snv		0.30	18
rs17145738	TBL2	0.851	0.200	7	73568544	3 prime UTR variant	C/T	snv		0.11	11
rs17050272	LOC105373585	0.882	0.120	2	120548864	upstream gene variant	G/A	snv		0.33	9
rs2244608	HNF1A ; HNF1A-AS1	0.882	0.160	12	120979185	intron variant	A/G	snv		0.29	9
rs12423664	FBRSL1	1.000	0.040	12	132493308	intron variant	G/A	snv		0.10	6
rs79598313	KDF1			1	26958422	intron variant	C/A;T	snv			5
rs78946096	DNAJC13			3	132469319	intron variant	A/G	snv		3.8E-02	3
rs4767631	KSR2			12	117873938	intron variant	G/A;C	snv			2