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
rs3184504	SH2B3 ; ATXN2	0.572	0.600	12	111446804	missense variant	T/A;C;G	snv	0.67		92
rs1260326	GCKR	0.645	0.600	2	27508073	missense variant	T/C;G	snv	0.63; 4.0E-06	0.68	81
rs334	HBB	0.724	0.240	11	5227002	missense variant	T/A;C;G	snv	3.5E-03		35
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
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
rs9917425	OTOR			20	16755400	intron variant	G/T	snv		0.16	13
rs17758695	BCL2			18	63253621	intron variant	C/T	snv		2.1E-02	10
rs150813342	GFI1B			9	132989126	synonymous variant	C/T	snv	4.1E-03	4.1E-03	9
rs385893		0.925	0.080	9	4763176	downstream gene variant	T/C	snv		0.44	9
rs3865444	CD33	0.851	0.160	19	51224706	upstream gene variant	C/A	snv		0.25	8
rs3731211	CDKN2A			9	21986848	intron variant	T/A	snv		0.74	7
rs192022	C11orf65			11	108378047	intron variant	C/G;T	snv			5
rs66505542	BUD13			11	116752498	intron variant	AA/-;A;AAA	delins			5
rs11405616	NDFIP1			5	142130697	intron variant	A/-;AA;AAA;AAAA	delins			4
rs1522744				15	64895675	intron variant	C/G;T	snv			2
rs75107793	TRABD			22	50190508	intron variant	G/A	snv		4.6E-02	2