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
rs772468040	FLT3	13	28057413	missense variant	C/G;T	snv	1.2E-05; 4.0E-06		2
rs777169839	PPARGC1A	4	23828453	missense variant	T/C;G	snv	2.4E-05		2
rs779151375	SDHA	5	236507	missense variant	A/G	snv	8.0E-06	1.4E-05	2
rs786202055	TP53	17	7673714	frameshift variant	C/-	delins			2
rs786202676	CHEK2	22	28696956	missense variant	T/A;G	snv			2
rs7984952	USPL1	13	30657669	missense variant	T/C	snv	0.41	0.51	2
rs876659517	APC	5	112835080	stop gained	C/T	snv			2
rs886040872	CYLD	16	50777915	stop gained	C/A	snv	4.0E-06		2
rs886041332	PTEN	10	87960962	frameshift variant	A/-	del			2
rs1003129577	WDR48	3	39094706	missense variant	G/C	snv			1
rs1020833107	TTF1	9	132398145	synonymous variant	G/A	snv		7.0E-06	1
rs10269422	HDAC9	7	18814978	intron variant	T/A	snv		0.46	1
rs1041326	DAPK1	9	87541931	intron variant	C/T	snv		0.14	1
rs1045315350	COL18A1	21	45456344	missense variant	C/A	snv			1
rs1051554521	ANXA6	5	151128211	missense variant	G/A	snv	2.0E-04	7.0E-05	1
rs1056719	DAPK1	9	87707108	missense variant	G/A	snv	0.67	0.59	1
rs1057519817	ERBB3	12	56088073	missense variant	C/A;G	snv	4.0E-06		1
rs1057519820	MAP2K1	15	66436810	missense variant	A/C	snv			1
rs1057519821	MAP2K1	15	66436814	missense variant	G/C;T	snv			1
rs1057519823	MAP2K1	15	66481830	missense variant	T/C	snv			1
rs1057519839	PIK3R1	5	68295257	missense variant	G/T	snv			1
rs1057519840	PIK3R1	5	68295257	inframe deletion	GACAAACGTATGAACAGC/-	del			1
rs1057519842	PIK3R1	5	68295304	inframe deletion	CGA/-	delins			1
rs1057519843	APC	5	112839522	frameshift variant	AAGATTGGAAC/-	del			1
rs1057519844	APC	5	112839522	frameshift variant	AAGATTGGAACTAGGTCAGC/-	del			1