DisGeNET - a database of gene-disease associations

Source: GWASCAT ×

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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
rs142529006	ZKSCAN1			7	100022093	intron variant	T/A	snv		6.9E-03	4
rs9487023	CCDC162P			6	109268801	intron variant	A/G	snv		0.40	8
rs79674254	AK9			6	109501078	intron variant	C/A;T	snv			3
rs888194				12	109549113	downstream gene variant	C/G	snv		0.50	3
rs754205	IRS2			13	109759295	intron variant	A/C;G	snv			4
rs35188965	SLC12A7			5	1104823	intron variant	C/G;T	snv			12
rs2009581	ACOXL ; MIR4435-2HG			2	111050100	intron variant	G/A	snv		0.26	3
rs148125759	UGCG			9	111901105	intron variant	T/C	snv		1.0E-02	4
rs368865	ATP11A			13	112825506	missense variant	A/C;G;T	snv	0.76; 4.0E-06		4
rs55709272	IL1RN			2	113109711	intron variant	T/A;C	snv			5
rs56129102	CUL4A			13	113220766	intron variant	C/T	snv		0.20	3
rs1169299	HNF1A	1.000	0.080	12	120991391	intron variant	T/C	snv		0.43	4
rs9423289	C10orf88			10	122945179	intron variant	C/T	snv		0.58	3
rs532591337				19	12459271	intron variant	G/A	snv		4.9E-05	4
rs28601761		1.000	0.040	8	125487789	intron variant	C/G	snv		0.37	13
rs11244669	DHX32 ; BCCIP			10	125844213	intron variant	A/C	snv		0.28	4
rs57565032	EP400			12	131949846	upstream gene variant	G/T	snv		0.14	4
rs8177318	INHCAP ; TF			3	133748533	missense variant	T/A	snv	1.6E-04	2.9E-04	5
rs7775698	HBS1L	1.000	0.080	6	135097497	intron variant	C/T	snv		6.9E-02	11
rs7776054	HBS1L			6	135097778	intron variant	A/G	snv		0.24	13
rs73713131	TRAPPC9			8	140448235	intron variant	T/C	snv		8.8E-02	3
rs1050828	G6PD	0.790	0.200	X	154536002	missense variant	C/T	snv	9.1E-03	3.6E-02	6
rs706027	BZW2			7	16660352	intron variant	A/T	snv		0.43	4
rs183034862	LOC102724081 ; CERS6			2	168457008	intron variant	C/T	snv		1.8E-02	3
rs116577908	PLCL2			3	17056907	intron variant	A/G	snv		7.1E-03	4