DisGeNET - a database of gene-disease associations

List of associated variants

Malignant tumor of colon, C0007102

Source: UNIPROT ×

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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
rs121909242	PPARG	0.925	0.080	3	12416825	missense variant	A/C	snv			1
rs28936407	PPARG	0.925	0.080	3	12416831	missense variant	G/A	snv	8.0E-06	2.1E-05	1
rs121434623	PTPN12	0.925	0.080	7	77571160	missense variant	A/G	snv			1
rs121434507	PTPRJ	0.925	0.080	11	48123636	missense variant	C/T	snv	4.0E-05	6.3E-05	1
rs1566734	PTPRJ	0.807	0.120	11	48123823	missense variant	A/C	snv	0.17	0.15	1
rs55819519	TP53	0.627	0.400	17	7673751	missense variant	C/A;G;T	snv	1.6E-04	1.3E-04	1
rs587782705	TP53	0.807	0.280	17	7675157	missense variant	G/A	snv	8.0E-06		1
rs762846821	TP53	0.614	0.320	17	7675151	missense variant	C/A;T	snv	8.0E-06		1