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
rs1799945	LOC108783645 ; HFE	0.452	0.760	6	26090951	missense variant	C/G;T	snv	0.11	0.10	226
rs1260326	GCKR	0.645	0.600	2	27508073	missense variant	T/C;G	snv	0.63; 4.0E-06	0.68	81
rs429358	APOE	0.590	0.600	19	44908684	missense variant	T/C	snv	0.14	0.16	66
rs334	HBB	0.724	0.240	11	5227002	missense variant	T/A;C;G	snv	3.5E-03		35
rs11556924	ZC3HC1	0.752	0.240	7	130023656	missense variant	C/A;T	snv	4.0E-06; 0.28		21
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
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
rs2075672	TFR2 ; ACTL6B			7	100642673	intron variant	A/G	snv		0.65	8
rs3731211	CDKN2A			9	21986848	intron variant	T/A	snv		0.74	7
rs3747207	PNPLA3			22	43928975	intron variant	G/A	snv		0.22	7
rs142550358				9	88777772	intron variant	CT/-	delins		3.9E-02	5
rs66505542	BUD13			11	116752498	intron variant	AA/-;A;AAA	delins			5
rs61750929				9	88880220	regulatory region variant	C/A;T	snv			3