DisGeNET - a database of gene-disease associations

List of shared variants

Autistic Disorder, C0004352

Disease: Mental Retardation

Source: ALL

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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
rs1217691063	MTHFR	0.330	0.920	1	11796309	missense variant	A/G	snv	4.0E-06	7.0E-06	614
rs397507444	MTHFR	0.405	0.880	1	11794407	missense variant	T/G	snv			306
rs28935468	MECP2	0.732	0.240	X	154030912	missense variant	G/A	snv			17
rs1282813621	UPF3B	0.925	0.200	X	119837956	missense variant	C/T	snv		4.8E-05	3
rs140032597	UPF3B	0.925	0.200	X	119837923	missense variant	C/T	snv	6.6E-05	1.1E-04	3
rs762578331	UPF3B	0.925	0.200	X	119837939	missense variant	G/A;T	snv	8.2E-05; 5.5E-06		3