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
rs9349205	CCND3			6	41957421	intron variant	G/A;C	snv			7
rs144861591				6	26072764	intergenic variant	C/T	snv		3.8E-02	6
rs35158985	CDH1	0.882	0.080	16	68762843	intron variant	A/G	snv		0.38	6
rs112233623	CCND3			6	41957260	intron variant	C/T	snv		7.0E-03	5
rs2272783	FECH	1.000		18	57571588	synonymous variant	A/G	snv	0.12	6.3E-02	5
rs2857078	SLC4A1			17	44252803	intron variant	A/C	snv		0.62	5
rs3756668	PIK3R1	0.925	0.160	5	68300260	3 prime UTR variant	G/A;C	snv			5
rs3768321	PABPC4 ; PABPC4-AS1	1.000	0.080	1	39570256	intron variant	G/T	snv		0.14	5
rs55709272	IL1RN			2	113109711	intron variant	T/A;C	snv			5
rs6014993				20	57416581	regulatory region variant	A/G	snv		0.58	5
rs6730558	LOC105373411			2	8616053	intron variant	C/T	snv		0.47	5
rs920112	CDCA7			2	173354407	intron variant	G/A	snv		1.0E-01	5
rs11244669	DHX32 ; BCCIP			10	125844213	intron variant	A/C	snv		0.28	4
rs116577908	PLCL2			3	17056907	intron variant	A/G	snv		7.1E-03	4
rs1169299	HNF1A	1.000	0.080	12	120991391	intron variant	T/C	snv		0.43	4
rs11756659				6	25933704	upstream gene variant	A/G;T	snv			4
rs142529006	ZKSCAN1			7	100022093	intron variant	T/A	snv		6.9E-03	4
rs144204502	TK1 ; AFMID			17	78187152	5 prime UTR variant	C/G;T	snv	1.2E-02		4
rs148125759	UGCG			9	111901105	intron variant	T/C	snv		1.0E-02	4
rs1958078	SMOC1			14	69888141	intron variant	A/C;G	snv			4
rs2492301	LINC01137 ; ZC3H12A			1	37473572	intron variant	T/C	snv		0.53	4
rs3208787	NPLOC4			17	81558634	3 prime UTR variant	A/G	snv		0.24	4
rs35893164	PIM1			6	37175357	3 prime UTR variant	A/G	snv		6.5E-03	4
rs368865	ATP11A			13	112825506	missense variant	A/C;G;T	snv	0.76; 4.0E-06		4
rs532591337				19	12459271	intron variant	G/A	snv		4.9E-05	4