DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Blepharoptosis ×

Variants associated to the Gene: SOS1 ×

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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
rs397517148	SOS1	0.776	0.200	2	39023128	missense variant	C/T	snv			26
rs397517154	SOS1	0.763	0.280	2	39022773	missense variant	C/A;G;T	snv	4.0E-06		15
rs267607079	SOS1	0.776	0.240	2	39022772	missense variant	C/A;G	snv			13
rs137852813	SOS1	0.807	0.200	2	39051202	missense variant	A/C;G	snv			11