DisGeNET - a database of gene-disease associations

List of shared variants

Cerebral atrophy, C0235946

Disease: Muscle Spasticity

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
rs796052243	SPATA5	0.695	0.520	4	122934574	inframe deletion	CAA/-	delins			54
rs28936415	PMM2	0.752	0.320	16	8811153	missense variant	G/A	snv	4.1E-03	3.7E-03	22
rs80338700	PMM2	0.851	0.200	16	8806398	missense variant	C/G;T	snv	4.0E-06; 2.4E-05		7
rs730882147	MED20	0.851	0.080	6	41909351	missense variant	C/G	snv		7.0E-06	5
rs895293055	MED20	0.851	0.080	6	41909351	frameshift variant	C/-	delins			5