DisGeNET - a database of gene-disease associations

List of associated variants

Sarcoidosis, C0036202

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
rs9511937	ATP8A2	1.000	0.040	13	25849760	intron variant	G/A;T	snv			1
rs9511938	ATP8A2	1.000	0.040	13	25849774	intron variant	A/G	snv		0.14	1
rs9511939	ATP8A2	1.000	0.040	13	25850518	intron variant	T/G	snv		0.14	1
rs9511941	ATP8A2	1.000	0.040	13	25850692	intron variant	A/G	snv		0.14	1
rs9511942	ATP8A2	1.000	0.040	13	25850702	intron variant	G/A	snv		0.14	1
rs9511943	ATP8A2	1.000	0.040	13	25850921	intron variant	A/G;T	snv			1
rs9511944	ATP8A2	1.000	0.040	13	25850925	intron variant	T/A	snv		0.13	1
rs9511945	ATP8A2	1.000	0.040	13	25851056	intron variant	C/G	snv		0.14	1
rs9511946	ATP8A2	1.000	0.040	13	25851130	intron variant	A/G	snv		0.14	1
rs9511947	ATP8A2	1.000	0.040	13	25851239	intron variant	G/A	snv		0.14	1
rs9511949	ATP8A2	1.000	0.040	13	25851476	intron variant	G/A	snv		0.14	1
rs9511950	ATP8A2	1.000	0.040	13	25851514	intron variant	C/A	snv		0.13	1
rs9511952	ATP8A2	1.000	0.040	13	25851530	intron variant	C/T	snv		0.13	1
rs9511955	ATP8A2	1.000	0.040	13	25851915	intron variant	T/C	snv		0.14	1
rs9511957	ATP8A2	1.000	0.040	13	25852663	intron variant	C/A;T	snv			1
rs9511958	ATP8A2	1.000	0.040	13	25853625	intron variant	C/T	snv		0.14	1
rs9581465	ATP8A2	1.000	0.040	13	25848944	intron variant	A/C	snv		0.14	1
rs9581467	ATP8A2	1.000	0.040	13	25850231	intron variant	C/T	snv		0.14	1
rs653178	ATXN2	0.672	0.600	12	111569952	intron variant	C/T	snv		0.67	41
rs10877012	CYP27B1 ; METTL1	0.763	0.280	12	57768302	intron variant	G/C;T	snv			10
rs1050045	OS9	1.000	0.040	12	57721488	3 prime UTR variant	T/C	snv		0.40	1
rs1695	GSTP1	0.457	0.880	11	67585218	missense variant	A/G	snv	0.34	0.36	188
rs10741657	CYP2R1	0.637	0.520	11	14893332	upstream gene variant	A/G	snv		0.65	34
rs694739	LOC102723878	0.763	0.320	11	64329761	upstream gene variant	A/G	snv		0.28	9
rs479777	CCDC88B ; LOC102723878	1.000	0.040	11	64340005	upstream gene variant	T/C	snv		0.27	1