DisGeNET - a database of gene-disease associations

List of associated variants

Pseudocholinesterase Measurement, C1168443

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	Num. diseases
rs505922	ABO	0.689	0.520	9	133273813	intron variant	C/T	snv		34
rs599839	PSRC1	0.724	0.360	1	109279544	downstream gene variant	G/A;C	snv		27
rs4977574	CDKN2B-AS1	0.695	0.520	9	22098575	intron variant	A/G;T	snv		26
rs657152	ABO	0.882	0.200	9	133263862	intron variant	A/C;T	snv		22
rs1169288	HNF1A-AS1 ; HNF1A	0.776	0.160	12	120978847	missense variant	A/C;T	snv	0.35	21
rs1800775	CETP	0.790	0.240	16	56961324	upstream gene variant	C/A;G	snv	0.51; 5.7E-06	18
rs687621	ABO	0.851	0.240	9	133261662	intron variant	G/A;C	snv		18
rs687289	ABO	1.000	0.120	9	133261703	intron variant	A/G	snv		15
rs1532085	ALDH1A2	0.882	0.080	15	58391167	intron variant	A/G;T	snv		13
rs529565	ABO	0.851	0.120	9	133274084	intron variant	C/T	snv		13
rs2075290	ZPR1	0.882	0.160	11	116782580	intron variant	C/G;T	snv		10
rs445925	APOC1	0.882	0.080	19	44912383	non coding transcript exon variant	G/A;C	snv		10
rs612169	ABO			9	133268030	intron variant	G/A	snv		10
rs6589566	ZPR1	0.882	0.080	11	116781707	intron variant	G/A;C;T	snv		10
rs711752	CETP	1.000	0.040	16	56962299	splice region variant	G/A;C	snv		10
rs2259816	HNF1A	0.827	0.280	12	120997784	synonymous variant	G/A;T	snv	6.7E-06; 0.40	8
rs545971	ABO			9	133267960	intron variant	T/A;C	snv		8
rs643434	ABO			9	133266942	intron variant	A/G;T	snv		8
rs674302	ABO			9	133271249	intron variant	A/T	snv		8
rs644234	ABO			9	133266804	intron variant	G/T	snv		7
rs7310409	HNF1A	0.925	0.160	12	120987058	intron variant	A/C;G;T	snv		7
rs734553	SLC2A9	0.851	0.240	4	9921380	intron variant	G/A;T	snv		7
rs737267	SLC2A9	0.851	0.240	4	9933120	intron variant	G/A;T	snv		7
rs7499892	CETP			16	56972678	intron variant	C/G;T	snv		7
rs1169313	C12orf43			12	121004867	intron variant	T/A;C	snv		6