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
rs653178	ATXN2	0.672	0.600	12	111569952	intron variant	C/T	snv		0.67	41
rs2187668	LOC107986589 ; HLA-DQA2 ; HLA-DQA1	0.701	0.480	6	32638107	intron variant	C/T	snv		3.3E-03	20
rs7517847	IL23R ; C1orf141	0.689	0.600	1	67215986	intron variant	T/G	snv		0.37	19
rs3117582	BAG6 ; APOM	0.716	0.440	6	31652743	intron variant	T/G	snv		7.1E-02	14
rs2247056	LOC112267902 ; HLA-B ; LINC02571	0.882	0.160	6	31297713	intron variant	T/C	snv		0.80	11
rs10877012	CYP27B1 ; METTL1	0.763	0.280	12	57768302	intron variant	G/C;T	snv			10
rs11465804	IL23R	0.752	0.320	1	67236843	intron variant	T/G	snv	4.4E-02	5.4E-02	10
rs1480380	HLA-DMB	0.763	0.360	6	32945469	intron variant	C/T	snv		0.11	10
rs9257809	OR12D3 ; OR5V1	0.790	0.320	6	29388554	intron variant	A/G	snv		5.8E-02	10
rs3817963	TSBP1-AS1 ; BTNL2	0.776	0.360	6	32400310	intron variant	T/C	snv		0.25	8
rs6910071	TSBP1 ; TSBP1-AS1	0.790	0.320	6	32315077	intron variant	A/G	snv		0.14	7
rs9268403	TSBP1 ; TSBP1-AS1	0.807	0.240	6	32373696	intron variant	T/C	snv		0.24	6
rs10213865	LOC105374724 ; IL7R	0.827	0.120	5	35857748	intron variant	A/C;T	snv			5
rs2239804	HLA-DRA	0.851	0.240	6	32443746	intron variant	T/A;C	snv	0.51		5
rs2395157	TSBP1-AS1	0.827	0.240	6	32380368	intron variant	A/G	snv		0.24	5
rs9268402	TSBP1 ; TSBP1-AS1	0.827	0.200	6	32373576	intron variant	G/A	snv		0.45	5
rs2239802	HLA-DRA	0.882	0.200	6	32444069	intron variant	C/A;G;T	snv			4
rs2239803	HLA-DRA	0.882	0.240	6	32444056	intron variant	C/A;T	snv		0.50	4
rs2524163	HLA-B	0.925	0.160	6	31291802	intron variant	C/T	snv		0.66	4
rs3129888	HLA-DRA	0.882	0.240	6	32443949	intron variant	G/A	snv	0.82	0.80	4
rs3135394	HLA-DRA	0.851	0.240	6	32440720	intron variant	A/G	snv		6.3E-02	4
rs3793126	TSBP1-AS1 ; BTNL2	0.882	0.240	6	32403842	intron variant	A/G	snv		0.24	3
rs3917200	TGFB3 ; IFT43	0.882	0.080	14	75963525	intron variant	A/G	snv	9.2E-02	0.14	3
rs12069782	C1orf141	1.000	0.040	1	67134418	intron variant	C/T	snv		0.82	2
rs1891467	TGFB2	0.925	0.040	1	218406643	intron variant	A/G	snv		0.34	2