DisGeNET - a database of gene-disease associations

Source: GWASCAT

Variants associated to the Disease: Ankylosing spondylitis ×

Variants associated to the Gene: ERAP1 ×

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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
rs4869313	ERAP2 ; ERAP1	0.724	0.240	5	96888176	intron variant	T/A;G	snv			14
rs2549803	ERAP1	0.827	0.120	5	96839226	intron variant	C/T	snv		0.27	5
rs2910686	ERAP2 ; ERAP1	0.827	0.120	5	96916885	intron variant	T/C	snv		0.42	5
rs469758	LOC102724748 ; ERAP1	0.827	0.120	5	96786011	intron variant	C/T	snv	0.62	0.63	5
rs10045403	ERAP1	0.882	0.040	5	96812030	upstream gene variant	A/G	snv		0.23	3
rs17482078	LOC102724748 ; ERAP1	0.882	0.240	5	96783162	missense variant	C/G;T	snv	2.8E-05; 0.15		2
rs27434	ERAP1	1.000	0.040	5	96793809	synonymous variant	A/G;T	snv	0.72; 1.2E-05		1
rs27529	ERAP1	1.000	0.040	5	96790605	missense variant	A/G;T	snv	0.62		1
rs30187	ERAP1	0.732	0.360	5	96788627	missense variant	T/A;C	snv	0.62		1
rs27044	ERAP1 ; LOC102724748	0.827	0.240	5	96783148	missense variant	G/C	snv	0.69	0.71	1