DisGeNET - a database of gene-disease associations

List of shared variants

Rett Syndrome, C0035372

Disease: Autistic Disorder

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
rs6265	BDNF ; BDNF-AS	0.436	0.760	11	27658369	missense variant	C/T	snv	0.19	0.15	272
rs267608327	MECP2	0.763	0.200	X	154030631	splice acceptor variant	CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/-	delins			25
rs61750240	MECP2	0.752	0.240	X	154031020	stop gained	G/A;C	snv	5.5E-06		19
rs28935468	MECP2	0.732	0.240	X	154030912	missense variant	G/A	snv			17
rs79667838	GRPR	0.882	0.120	X	16150432	missense variant	C/T	snv	3.0E-04	4.8E-04	3