DisGeNET - a database of gene-disease associations

List of shared variants

Plantar Lipomatosis, Unusual Facies, and Developmental Delay, C1865644

Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 41

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
rs1553808301	TBL1XR1	0.925	0.160	3	177033051	missense variant	A/C;G	snv			2
rs1553810255	TBL1XR1	0.925	0.160	3	177038386	missense variant	C/T	snv			2