DisGeNET - a database of gene-disease associations

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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
rs10886430	GRK5			10	119250744	intron variant	A/G	snv		8.8E-02	3
rs11030122	STIM1			11	3865946	intron variant	C/G	snv		0.27	2
rs11071720	TPM1-AS ; TPM1			15	63049797	intron variant	T/C;G	snv			3
rs11082304	CABLES1			18	23141009	intron variant	G/C;T	snv			6
rs11121012	CAMTA1			1	7734229	intron variant	A/G	snv		0.62	2
rs117672662	ACTN1			14	68958750	intron variant	T/C	snv		7.4E-03	3
rs12041331	PEAR1	0.776	0.200	1	156899922	intron variant	G/A	snv		0.19	11
rs12445050	PLCG2			16	81837364	intron variant	C/T	snv		9.6E-02	3
rs139141690	CUX1			7	101856650	intron variant	G/A	snv		2.2E-03	3
rs1569419	PRDM16			1	3080038	intron variant	T/C	snv		0.73	5
rs185898	RTTN			18	70023957	intron variant	G/A	snv		4.4E-02	2
rs200891	LOC107984104			20	1811274	intron variant	T/G	snv		0.56	2
rs2014511	LOC105377498 ; TMEM131L			4	153536367	intron variant	G/A;T	snv		4.7E-02	2
rs2038480	DNM3			1	171970501	intron variant	A/G;T	snv			2
rs2057149	DDO			6	110396290	intron variant	C/T	snv		0.74	2
rs342295	CTB-30L5.1			7	106732314	intron variant	C/T	snv		0.41	2
rs35188965	SLC12A7			5	1104823	intron variant	C/G;T	snv			12
rs3804749	PDIA5			3	123114156	intron variant	C/T	snv		0.48	3
rs41315846	GCSAML			1	247549001	intron variant	T/C	snv	0.44	0.52	3
rs4555082	BRF1			14	105292627	intron variant	C/T	snv		0.30	2
rs4907622	GRTP1			13	113362571	intron variant	G/C;T	snv			3
rs655029	EHD3			2	31254972	intron variant	G/A	snv		0.78	3
rs6993770	ZFPM2 ; ZFPM2-AS1	0.925	0.080	8	105569300	intron variant	A/T	snv		0.31	9
rs7641175	TBC1D5			3	18269920	intron variant	G/A	snv		0.81	3
rs76900683	LNX2			13	27583898	intron variant	G/C	snv		3.0E-02	2