DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Motor Neuron Disease, Lower ×

Variants associated to the Gene: SOD1 ×

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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
rs121912442	SOD1 ; LOC102724449	0.807	0.120	21	31659783	missense variant	C/T	snv	3.6E-05		7
rs774994509	SOD1	0.851	0.080	21	31667296	missense variant	A/G	snv	4.0E-06		5