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	Chr	Position	Consequence	Alleles	Class	AF EXOME	AF GENOME	Num. diseases
rs797044852	FKBP10	17	41821027	frameshift variant	TG/-	delins			1
rs1553477189	GLI2	2	120982843	frameshift variant	-/C	delins			1
rs797044857	GRHL3	1	24354474	missense variant	C/G	snv			1
rs1340611668	HHAT	1	210348976	start lost	A/G;T	snv		7.0E-06	1
rs1554274371	HIVEP2	6	142753484	stop gained	G/A	snv			1
rs753670589	IQCE	7	2593110	stop gained	C/T	snv	1.6E-05	7.0E-06	1
rs1555188379	KMT2D	12	49032761	stop gained	G/A	snv			1
rs1555543296	MYO15A ; LOC105371566	17	18135775	missense variant	T/G	snv			1
rs1555545225	MYO15A ; LOC105371566	17	18146034	frameshift variant	-/G	delins			1
rs1553535063	NDUFB3	2	201085517	frameshift variant	T/-	delins			1
rs1556038028	NHS	X	17724421	stop gained	C/T	snv			1
rs1348892740	NOTCH1	9	136523954	stop gained	G/A	snv	6.2E-06		1
rs1554826746	NOTCH1	9	136499244	stop gained	G/A	snv			1
rs1555447465	NR2F2	15	96337474	missense variant	G/C	snv			1
rs779617179	NRP2	2	205763747	frameshift variant	T/-	del		7.0E-06	1
rs1554865146	PAX2	10	100809207	stop gained	C/G	snv			1
rs1556267123	PLP1 ; RAB9B	X	103786627	frameshift variant	AG/-	del			1
rs1554643463	PUF60	8	143818387	frameshift variant	T/-	del			1
rs1553275644	RAB3GAP2	1	220182355	splice acceptor variant	C/T	snv			1
rs1555565426	RAI1	17	17795180	frameshift variant	CCTG/-	delins			1
rs1553284965	RPL5 ; DIPK1A	1	92833459	splice donor variant	G/A	snv			1
rs1553706324	SCN5A	3	38614067	splice acceptor variant	C/G	snv			1
rs797044882	SMAD2	18	47848537	missense variant	C/G	snv			1
rs1555605893	SMARCE1	17	40637502	missense variant	T/C	snv			1
rs1553327954	SOX11	2	5693512	stop gained	C/A	snv			1