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
rs2403261	SBF2			11	10000244	non coding transcript exon variant	T/C	snv		0.25	1
rs7932484	SBF2			11	10003336	intron variant	T/C	snv		0.27	1
rs2896514	SBF2			11	10006354	intron variant	T/C	snv		0.25	1
rs7936461	SBF2			11	10019339	intron variant	C/T	snv		0.25	1
rs7130610	SBF2			11	10022557	intron variant	C/G	snv		0.26	1
rs11768465	PCOLCE ; FBXO24 ; PCOLCE-AS1			7	100600763	missense variant	C/G;T	snv	0.22; 4.0E-06		1
rs7812235	MOSPD3			7	100613863	intron variant	G/C;T	snv			1
rs12532878	MOSPD3			7	100614631	intron variant	G/A;C	snv		0.18	2
rs11764045	MOSPD3			7	100615131	intron variant	C/T	snv	0.18	0.16	1
rs7786877				7	100616392	downstream gene variant	A/G	snv		0.22	3
rs10487157				7	100616864	downstream gene variant	C/G	snv		0.16	1
rs10247962	TFR2	1.000	0.040	7	100622306	intron variant	G/A	snv		0.88	2
rs4729598	TFR2			7	100624244	intron variant	T/C	snv		0.91	1
rs2075674	TFR2	1.000	0.040	7	100627408	synonymous variant	G/A	snv	0.18	0.16	2
rs4548095	TFR2			7	100629042	intron variant	C/T	snv		0.69	1
rs7457868	TFR2			7	100629565	intron variant	A/C;T	snv			1
rs7385804	TFR2	0.851	0.120	7	100638347	intron variant	C/A	snv		0.65	14
rs4727457	TFR2			7	100638970	intron variant	T/C	snv		0.87	1
rs4729600	TFR2			7	100639734	intron variant	T/C	snv		0.87	1
rs4434553	TFR2	1.000	0.040	7	100642568	intron variant	A/G	snv		0.40	5
rs2075672	TFR2 ; ACTL6B			7	100642673	intron variant	A/G	snv		0.65	8
rs1052897	ACTL6B ; TFR2			7	100643148	3 prime UTR variant	A/T	snv		0.88	1
rs6952341	LOC105375429			7	100658605	upstream gene variant	G/T	snv		0.22	1
rs221786				7	100668458	regulatory region variant	T/C	snv		0.92	1
rs221790	GIGYF1			7	100680659	3 prime UTR variant	G/A;C	snv			1