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
rs10414846	HAMP			19	35281568	intron variant	C/T	snv	0.21	3
rs10758656	RCL1			9	4852599	intron variant	A/G	snv	0.19	7
rs112233623	CCND3			6	41957260	intron variant	C/T	snv	7.0E-03	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
rs13007705	ERFE			2	238160555	intron variant	C/T	snv	0.46	3
rs13331259	FAM234A			16	249924	intron variant	A/G	snv	3.0E-02	14
rs142529006	ZKSCAN1			7	100022093	intron variant	T/A	snv	6.9E-03	4
rs148125759	UGCG			9	111901105	intron variant	T/C	snv	1.0E-02	4
rs1505307	THRB			3	24301839	intron variant	T/C	snv	0.60	7
rs17076726	CPEB4			5	173936886	intron variant	C/T	snv	0.43	3
rs17476364	HK1			10	69334748	intron variant	T/C	snv	6.4E-02	8
rs183034862	LOC102724081 ; CERS6			2	168457008	intron variant	C/T	snv	1.8E-02	3
rs1958078	SMOC1			14	69888141	intron variant	A/C;G	snv		4
rs2009581	ACOXL ; MIR4435-2HG			2	111050100	intron variant	G/A	snv	0.26	3
rs2468024	MTDH			8	97652425	intron variant	G/A;C	snv		3
rs2492301	LINC01137 ; ZC3H12A			1	37473572	intron variant	T/C	snv	0.53	4
rs2834259	ITSN1			21	33760786	intron variant	C/T	snv	0.30	3
rs2857078	SLC4A1			17	44252803	intron variant	A/C	snv	0.62	5
rs28601761		1.000	0.040	8	125487789	intron variant	C/G	snv	0.37	13
rs35158985	CDH1	0.882	0.080	16	68762843	intron variant	A/G	snv	0.38	6
rs35188965	SLC12A7			5	1104823	intron variant	C/G;T	snv		12
rs35979828	NFE2			12	54292096	intron variant	C/T	snv	5.0E-02	9
rs3740685	RAPSN			11	47447239	intron variant	C/T	snv	0.59	3