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
rs142529006	ZKSCAN1			7	100022093	intron variant	T/A	snv		6.9E-03	4
rs117460458	TAF6 ; AP4M1			7	100108776	3 prime UTR variant	C/G	snv		1.1E-02	1
rs10148930	EVL			14	100134466	intron variant	A/G;T	snv			1
rs10496344	AFF3			2	100147663	intron variant	T/C;G	snv			1
rs17250196	CASTOR3 ; PVRIG ; STAG3			7	100219573	3 prime UTR variant	G/A;T	snv			2
rs12532878	MOSPD3			7	100614631	intron variant	G/A;C	snv		0.18	2
rs7786877				7	100616392	downstream gene variant	A/G	snv		0.22	3
rs4729597	TFR2			7	100624226	intron variant	C/T	snv		0.69	2
rs62482241	TFR2			7	100637885	intron variant	G/A	snv		0.23	2
rs7385804	TFR2	0.851	0.120	7	100638347	intron variant	C/A	snv		0.65	14
rs4434553	TFR2	1.000	0.040	7	100642568	intron variant	A/G	snv		0.40	5
rs1555405				14	100710432	regulatory region variant	G/A	snv		0.29	2
rs142267802	ZAN			7	100743255	intron variant	C/T	snv		1.9E-02	1
rs116979562	EPHB4			7	100816525	intron variant	G/A	snv		1.6E-02	2
rs143228326	SLC12A9			7	100834812	intron variant	G/A	snv		1.2E-02	1
rs7790961				7	101111694	intergenic variant	G/A	snv		0.96	1
rs35094522	PLOD3 ; ZNHIT1			7	101219111	non coding transcript exon variant	A/C;G	snv			1
rs9859077	SENP7			3	101417558	intron variant	G/A;C	snv	0.28		2
rs149727694	SENP7			3	101442847	intron variant	A/-;AA;AAA	delins			1
rs61874020	BTRC			10	101503499	intron variant	C/T	snv		0.10	1
rs2690935				7	101767398	intergenic variant	C/T	snv		0.29	1
rs10883710	PPRC1			10	102125800	intergenic variant	T/C;G	snv			1
rs138828258	PPRC1			10	102142302	intron variant	AT/-;ATAT	delins			1
rs2290707	RRM2B ; UBR5-AS1			8	102239027	upstream gene variant	C/A	snv		2.8E-02	2
rs72845655	GBF1			10	102284277	intron variant	A/G	snv		1.6E-02	1