DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Short stature ×

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			27
rs137852814	SOS1	0.752	0.240	2	39022774	missense variant	T/A;C	snv	4.0E-06		16
rs397517150	SOS1	0.827	0.160	2	39023118	missense variant	A/C;G	snv			7
rs727505381	SOS1	0.925	0.160	2	39013523	missense variant	A/G	snv	4.0E-06		5