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 GENOME	Num. diseases
rs13331259	FAM234A			16	249924	intron variant	A/G	snv	3.0E-02	14
rs7775698	HBS1L	1.000	0.080	6	135097497	intron variant	C/T	snv	6.9E-02	14
rs112505971	ANKRD26			10	27068541	intron variant	A/C;G	snv		13
rs3123543	ATF3			1	212617344	intron variant	T/A;C	snv		13
rs4837892	TTLL11			9	121826025	intron variant	G/T	snv	0.36	13
rs603424	PKD2L1	1.000	0.080	10	100315722	intron variant	G/A	snv	0.34	13
rs7296503	PDZRN4			12	41306962	intron variant	C/T	snv	0.57	13
rs76792961	FAM234A			16	243594	intron variant	C/T	snv	7.3E-03	13
rs9917425	OTOR			20	16755400	intron variant	G/T	snv	0.16	13
rs11066301	PTPN11	0.827	0.200	12	112433568	intron variant	A/G	snv	0.30	12
rs35188965	SLC12A7			5	1104823	intron variant	C/G;T	snv		12
rs12041331	PEAR1	0.776	0.200	1	156899922	intron variant	G/A	snv	0.19	11
rs17758695	BCL2			18	63253621	intron variant	C/T	snv	2.1E-02	10
rs35979828	NFE2			12	54292096	intron variant	C/T	snv	5.0E-02	9
rs6993770	ZFPM2 ; ZFPM2-AS1	0.925	0.080	8	105569300	intron variant	A/T	snv	0.31	9
rs342293	CTB-30L5.1	0.882	0.040	7	106731773	intron variant	C/G	snv	0.42	7
rs11082304	CABLES1			18	23141009	intron variant	G/C;T	snv		6
rs11627485	FNTB ; CHURC1-FNTB ; MAX			14	65020976	intron variant	T/C	snv	0.36	5
rs13412535	SERPINE2			2	224010157	intron variant	G/A	snv	0.17	5
rs1569419	PRDM16			1	3080038	intron variant	T/C	snv	0.73	5
rs7394579	FADS2 ; FADS1	1.000	0.080	11	61813978	intron variant	A/G	snv	0.22	5
rs78909033	RNPEPL1			2	240571486	intron variant	G/A	snv	9.2E-02	5
rs7896518	JMJD1C			10	63344740	intron variant	A/G	snv	0.38	5
rs10761741	JMJD1C	1.000	0.040	10	63306426	intron variant	G/T	snv	0.38	4
rs1354034	ARHGEF3			3	56815721	intron variant	T/C	snv	0.49	4