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	Num. diseases
rs867114783	TP53	17	7675109	missense variant	T/C	snv		6
rs1131691041	TP53	17	7676271	frameshift variant	-/A	delins		3
rs121913381	CDKN2A	9	21971037	missense variant	C/A;T	snv		3
rs750600586	TP53	17	7675199	missense variant	G/A;T	snv		3
rs878853824	MSH2	2	47412558	stop gained	C/T	snv		3
rs1054003194	FBXO11 ; MSH6	2	47800892	frameshift variant	GGG/-;GG;GGGG	delins		2
rs1057517763	FBXO11 ; MSH6	2	47804920	stop gained	T/A	snv		2
rs1057517801	PMS2	7	5987022	frameshift variant	T/-	delins		2
rs1060500699	MLH1	3	37025702	frameshift variant	-/T	delins		2
rs1060502023	MSH2	2	47463156	splice donor variant	T/C	snv		2
rs1060502876	FBXO11 ; MSH6	2	47800718	stop gained	G/A	snv		2
rs1060502881	FBXO11 ; MSH6	2	47805636	frameshift variant	GAATT/-	delins		2
rs1060502886	FBXO11 ; MSH6	2	47799798	frameshift variant	TA/-	del		2
rs1060502918	MSH6 ; FBXO11	2	47799991	frameshift variant	G/-	delins		2
rs1060503110	PMS2	7	5978679	stop gained	A/C;T	snv		2
rs1060503137	PMS2	7	5986900	frameshift variant	TA/-	delins		2
rs1064793234	PMS2	7	5987185	frameshift variant	CT/-	del	4.0E-06	2
rs1064793561	MSH2	2	47466710	frameshift variant	ACTT/-	delins		2
rs1064794075	MSH6	2	47783495	splice donor variant	TA/AG	mnv		2
rs1064794155	MSH2	2	47412560	splice donor variant	G/-	delins		2
rs1064794384	MSH6 ; FBXO11	2	47806271	frameshift variant	TA/-	delins		2
rs1064795591	MSH6 ; FBXO11	2	47799916	stop gained	G/A;T	snv	4.0E-06; 4.0E-06	2
rs1114167689	FBXO11 ; MSH6	2	47791043	stop gained	C/G	snv		2
rs1114167696	FBXO11 ; MSH6	2	47798791	frameshift variant	A/-	delins		2
rs1114167702	MSH6 ; FBXO11	2	47799554	stop gained	CA/-	delins		2