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
rs2736100	TERT	0.550	0.880	5	1286401	3 prime UTR variant	C/A	snv		0.52	83
rs334	HBB	0.724	0.240	11	5227002	missense variant	T/A;C;G	snv	3.5E-03		35
rs1047891	CPS1	0.827	0.200	2	210675783	missense variant	C/A	snv	0.30	0.33	34
rs174548	FADS2 ; FADS1	0.851	0.160	11	61803876	5 prime UTR variant	C/G;T	snv			17
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
rs2853961				6	31264212	downstream gene variant	G/A	snv		0.38	13
rs3123543	ATF3			1	212617344	intron variant	T/A;C	snv			13
rs3840870	COL1A1			17	50184820	3 prime UTR variant	-/CTTG	delins			13
rs4837892	TTLL11			9	121826025	intron variant	G/T	snv		0.36	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
rs7776054	HBS1L			6	135097778	intron variant	A/G	snv		0.24	13
rs9399137	HBS1L	0.851	0.320	6	135097880	intron variant	T/C	snv		0.20	13
rs9917425	OTOR			20	16755400	intron variant	G/T	snv		0.16	13
rs3811444	TRIM58			1	247876149	missense variant	C/T	snv	0.31	0.26	12
rs9494145		0.925	0.080	6	135111414	intergenic variant	T/A;C	snv			11
rs17758695	BCL2			18	63253621	intron variant	C/T	snv		2.1E-02	10
rs4895441	LOC105378010	0.925	0.080	6	135105435	upstream gene variant	A/G	snv		0.21	10
rs2075672	TFR2 ; ACTL6B			7	100642673	intron variant	A/G	snv		0.65	8
rs2283847	MN1			22	27785411	intron variant	C/A;G;T	snv			7
rs7529925	LINC01221			1	199038079	intron variant	C/T	snv		0.77	4