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	Chr	Position	Consequence	Alleles	Class	Num. diseases
rs1553505302	HIBCH	2	190290419	missense variant	A/G	snv	1
rs1553547885	SATB2	2	199328831	missense variant	A/C	snv	1
rs1553632361	CTNNB1	3	41236468	frameshift variant	AG/-	delins	1
rs1553689580	SLC6A1	3	11025543	missense variant	T/C	snv	1
rs1553845569	CC2D2A	4	15599527	splice acceptor variant	A/G	snv	1
rs1553881510	SEPSECS	4	25155086	frameshift variant	-/T	delins	1
rs1553881788	SEPSECS	4	25156889	missense variant	T/C	snv	1
rs1553996876	NAA15	4	139359896	splice donor variant	G/A	snv	1
rs1554094278	GABRB2	5	161336685	missense variant	T/G	snv	1
rs1554120894	SYNGAP1	6	33435150	splice acceptor variant	A/G	snv	1
rs1554122402	SYNGAP1	6	33443961	splice donor variant	G/A	snv	1
rs1554128999	PURA	5	140114186	frameshift variant	GACCG/-	delins	1
rs1554168326	COL12A1	6	75102015	missense variant	C/T	snv	1
rs1554237050	ARID1B	6	157206240	frameshift variant	A/-	delins	1
rs1554269855	LAMA2	6	129315773	frameshift variant	-/G	delins	1
rs1554304258	SYNGAP1	6	33420307	frameshift variant	G/-	del	1
rs1554412300	FOXP2	7	114534645	stop gained	T/G	snv	1
rs1554603589	CHD7	8	60850623	splice donor variant	G/A	snv	1
rs1554767313	CIZ1 ; DNM1	9	128203597	missense variant	G/A	snv	1
rs1554770046	GRIN1	9	137162184	missense variant	A/C	snv	1
rs1554818540	RET	10	43111366	frameshift variant	-/G	delins	1
rs1554852244	FAS	10	89014158	frameshift variant	-/CATG	delins	1
rs1554879633	EHMT1	9	137778049	frameshift variant	-/G	delins	1
rs1555162486	TUBA1A	12	49186402	missense variant	C/A	snv	1
rs1555239936	MED13L	12	115963489	stop gained	G/A	snv	1