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
rs2199333	RGS22	0.882	0.040	8	99999120	intron variant	C/G;T	snv			3
rs4727443	LOC105375423			7	99995723	upstream gene variant	C/A;G	snv			1
rs145482150	ADAMTS17			15	99993107	missense variant	C/T	snv	2.0E-04	2.0E-04	1
rs141115006	RGS22	0.882	0.040	8	99992792	intron variant	C/T	snv			3
rs34795510	AFF3			2	99992378	intron variant	C/T	snv		2.6E-02	1
rs6719214	AFF3			2	99990959	intron variant	T/C	snv		0.13	1
rs7678287	SLC2A9 ; LOC105374476	1.000	0.080	4	9998877	intron variant	A/C;G;T	snv			1
rs56127672	AFF3			2	99988291	intron variant	G/C	snv		1.5E-02	1
rs13032879	AFF3			2	99986297	intron variant	C/T	snv		0.13	1
rs34506349	AFF3			2	99982264	intron variant	G/A;C	snv			1
rs2247607	AZGP1			7	99977115	intron variant	T/A;C	snv			1
rs2573652	LOC105371022 ; ADAMTS17			15	99974409	missense variant	T/C;G	snv	0.66; 4.0E-06		1
rs2581348	ADAMTS17			15	99973858	3 prime UTR variant	C/T	snv		0.63	1
rs2573625	ADAMTS17			15	99972953	3 prime UTR variant	C/T	snv		0.62	1
rs2727195	ADAMTS17			15	99972912	3 prime UTR variant	G/A	snv		0.61	1
rs68092024	CMSS1 ; FILIP1L	0.925	0.120	3	99972678	intron variant	C/T	snv		0.68	2
rs13163913				5	99970233	intergenic variant	T/A;G	snv			1
rs187130073	AZGP1			7	99968131	missense variant	T/G	snv	5.3E-03	4.8E-03	1
rs62245492	EMC3 ; EMC3-AS1			3	9996419	intron variant	T/A	snv		4.0E-02	1
rs10760706	STX17	1.000	0.040	9	99961410	intron variant	C/T	snv		0.69	1
rs34321437	AFF3			2	99960959	intron variant	C/T	snv		2.6E-02	1
rs13023088	AFF3			2	99959842	intron variant	C/T	snv		0.13	1
rs113577745	GRHL1	1.000	0.080	2	9995553	intron variant	C/G	snv		8.8E-02	1
rs75211749				10	9995403	intergenic variant	C/T	snv		2.3E-02	1
rs10953292				7	99953178	downstream gene variant	C/A;G	snv			1