DisGeNET - a database of gene-disease associations

Source: ALL

Results per page

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	Num. diseases
rs10173538	BAZ2B ; MARCHF7			2	159712765	intron variant	C/G;T	snv		5
rs10206089				2	61476184	intron variant	G/A	snv		4
rs10409243	S1PR2 ; DNMT1			19	10222312	3 prime UTR variant	C/A;G;T	snv		6
rs11405616	NDFIP1			5	142130697	intron variant	A/-;AA;AAA;AAAA	delins		4
rs11428934	CA11 ; SEC1P			19	48640988	intron variant	-/G	ins		4
rs1144700	ATXN1			6	16744456	intron variant	C/G;T	snv		5
rs11734460	PCGF3			4	711285	intron variant	C/A;T	snv		4
rs12600856				17	40007042	intergenic variant	T/C;G	snv		5
rs139707092	SPC25 ; NOSTRIN			2	168850753	intron variant	TCTCTGGAAT/-;TCTCTGGAATTCTCTGGAAT	delins		5
rs14408	IFITM2			11	308314	missense variant	T/C;G	snv	0.53	4
rs145013566	PNKD			2	218297998	intron variant	-/C	ins		5
rs147694761	NPC1			18	23571654	intron variant	AAAA/-;A;AA;AAA;AAAAA;AAAAAA	delins		5
rs192022	C11orf65			11	108378047	intron variant	C/G;T	snv		5
rs1968252	LOC105372263			19	7782850	upstream gene variant	G/A;T	snv		5
rs1969949	DOCK8			9	305428	intron variant	T/A;C;G	snv		3
rs201950044				1	161639782	intergenic variant	G/T	snv		5
rs2208568	LOC105373215 ; LINC02768			1	235926855	intergenic variant	T/A;C;G	snv		5
rs28476539	SCD5			4	82631138	3 prime UTR variant	G/A;T	snv		3
rs2979489	RBPMS			8	30423317	intron variant	G/A;C	snv		6
rs3184504	SH2B3 ; ATXN2	0.572	0.600	12	111446804	missense variant	T/A;C;G	snv	0.67	92
rs34061361	FLT3			13	28044450	intron variant	AAA/-;A;AA;AAAA	delins		5
rs34208856	HBS1L			6	135099930	intron variant	TT/-;T;TTT;TTTTTTTTT	delins		6
rs35188965	SLC12A7			5	1104823	intron variant	C/G;T	snv		12
rs3917914	CSF3R			1	36482287	intron variant	G/A;T	snv		5
rs397731840	CCDC26			8	129599504	intron variant	TT/-;T;TTT;TTTT;TTTTT	delins		5