DisGeNET - a database of gene-disease associations

Source: CURATED ×

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	AF GENOME	Num. diseases
rs1555565426	RAI1			17	17795180	frameshift variant	CCTG/-	delins			1
rs1555605893	SMARCE1			17	40637502	missense variant	T/C	snv			1
rs1555809836	ADNP			20	50892215	frameshift variant	T/-	delins			1
rs1555815731	BMP7			20	57228383	frameshift variant	G/-	delins			1
rs1555907749	EP300			22	41131612	frameshift variant	-/T	delins			1
rs1555912419	ASXL1			20	32435823	stop gained	G/A	snv			1
rs1555918056	BCOR			X	40072918	stop gained	G/A	snv			1
rs1555984102	DYRK1A ; LOC105372797			21	37490194	frameshift variant	AT/-	delins			1
rs1556038028	NHS			X	17724421	stop gained	C/T	snv			1
rs1556105875	EFNB1			X	68838630	stop gained	A/T	snv			1
rs1556267123	PLP1 ; RAB9B			X	103786627	frameshift variant	AG/-	del			1
rs750803248	CDH23			10	71646592	frameshift variant	-/G	delins			1
rs753670589	IQCE			7	2593110	stop gained	C/T	snv	1.6E-05	7.0E-06	1
rs779617179	NRP2			2	205763747	frameshift variant	T/-	del		7.0E-06	1
rs797044852	FKBP10			17	41821027	frameshift variant	TG/-	delins			1
rs797044857	GRHL3			1	24354474	missense variant	C/G	snv			1
rs797044859	ARID1B			6	157200765	frameshift variant	AT/-	del			1
rs797044882	SMAD2			18	47848537	missense variant	C/G	snv			1
rs797044890	ANKRD11			16	89275092	splice donor variant	C/T	snv			1
rs797044919	CHD7			8	60845364	frameshift variant	-/C	delins			1
rs866435331	CDH23 ; C10orf105			10	71712685	stop gained	C/T	snv			1
rs981267400	DNAH5			5	13871562	splice donor variant	A/G	snv	4.0E-06		1
rs104894230	HRAS ; LRRC56	0.564	0.600	11	534288	missense variant	C/A;G;T	snv			37
rs397507520	PTPN11	0.658	0.520	12	112453279	missense variant	G/C;T	snv			34
rs80338796	RAF1	0.667	0.480	3	12604200	missense variant	G/A;C	snv	4.0E-06		35