DisGeNET - a database of gene-disease associations

Source: UNIPROT

Variants associated to the Disease: FOCAL CORTICAL DYSPLASIA OF TAYLOR ×

Variants associated to the Gene: MTOR ×

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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
rs1057519779	MTOR	0.925	0.200	1	11157242	missense variant	A/G	snv			1
rs1057519914	MTOR	0.851	0.240	1	11157174	missense variant	A/G	snv			1
rs1085307113	MTOR	1.000	0.080	1	11114338	missense variant	A/G;T	snv			1
rs1085307114	MTOR	1.000	0.080	1	11157255	missense variant	A/C	snv			1
rs587777893	MTOR	0.658	0.240	1	11128107	missense variant	G/A;T	snv			1
rs587777894	MTOR	0.776	0.240	1	11124516	missense variant	G/A;T	snv			1
rs587777895	MTOR	1.000	0.080	1	11139308	missense variant	C/T	snv	8.2E-06	2.1E-05	1
rs913197212	MTOR	1.000	0.080	1	11238533	missense variant	C/T	snv	2.8E-05	1.4E-05	1