DisGeNET - a database of gene-disease associations

List of associated variants

Source: GWASDB ×

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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
rs671	ALDH2	0.529	0.840	12	111803962	missense variant	G/A	snv	1.9E-02	5.8E-03	10
rs401681	CLPTM1L	0.620	0.640	5	1321972	intron variant	C/T	snv		0.48	9
rs1229984	ADH1B	0.570	0.560	4	99318162	missense variant	T/C;G	snv	0.90		6
rs10069690	TERT	0.595	0.560	5	1279675	intron variant	C/T	snv		0.36	4
rs2274223	PLCE1	0.620	0.400	10	94306584	missense variant	A/G	snv	0.28	0.31	3
rs4444235		0.701	0.240	14	53944201	downstream gene variant	T/C	snv		0.43	2
rs10931936	CASP8	0.827	0.120	2	201279205	intron variant	T/C	snv		0.72	2
rs3802842	COLCA2 ; COLCA1	0.695	0.280	11	111300984	intron variant	C/A	snv		0.71	2
rs13016963	FLACC1	0.851	0.080	2	201298088	intron variant	A/G	snv		0.59	2
rs3765524	PLCE1	0.724	0.320	10	94298541	missense variant	C/T	snv	0.27	0.31	2
rs4939827	SMAD7	0.708	0.160	18	48927093	intron variant	T/A;C	snv			2
rs174538	TMEM258 ; MIR611 ; FEN1	0.701	0.440	11	61792609	5 prime UTR variant	G/A	snv	0.34	0.26	2
rs9841504	ZBTB20	0.827	0.120	3	114643917	intron variant	C/G;T	snv			2
rs1321311		0.742	0.160	6	36655123	regulatory region variant	C/A	snv		0.28	1
rs1800682	ACTA2 ; FAS	0.637	0.440	10	88990206	non coding transcript exon variant	A/G	snv		0.54	1
rs738722	CHEK2	0.882	0.120	22	28734024	intron variant	T/C	snv		0.67	1
rs465498	CLPTM1L	0.776	0.200	5	1325688	non coding transcript exon variant	A/G	snv		0.46	1
rs1035142	FLACC1	0.807	0.200	2	201288355	3 prime UTR variant	T/C;G	snv		0.54	1
rs1800871	IL19 ; IL10	0.508	0.800	1	206773289	5 prime UTR variant	A/G	snv		0.69	1
rs753955	LOC105370113	0.776	0.120	13	23719720	regulatory region variant	A/G	snv		0.50	1
rs17728461	LOC105372988 ; HORMAD2	0.776	0.120	22	30202563	intron variant	C/G	snv		0.25	1
rs4269383	LOC105378072 ; LOC101928923	0.882	0.120	6	155876368	intergenic variant	A/G	snv		0.37	1
rs1801131	MTHFR	0.535	0.840	1	11794419	missense variant	T/G	snv	0.29	0.26	1
rs4767364	NAA25	0.807	0.160	12	112083644	intron variant	G/A	snv		0.45	1
rs13042395	SLC52A3	0.752	0.160	20	773867	intron variant	C/T	snv		5.9E-02	1