DisGeNET - a database of gene-disease associations

List of associated variants

Smith-Magenis syndrome, C0795864

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
rs1555565492	RAI1	0.776	0.160	17	17795417	frameshift variant	-/G	delins			18
rs376048533	IFIH1	0.851	0.240	2	162272377	missense variant	C/T	snv	2.8E-05		4
rs104894633	RAI1	1.000	0.080	17	17798371	missense variant	G/A	snv			1
rs104894634	RAI1	1.000	0.080	17	17797633	missense variant	A/C;G	snv			1
rs1135401792	RAI1	1.000	0.080	17	17795909	frameshift variant	AAGA/-	delins			1
rs1555566042	RAI1	1.000	0.080	17	17797619	frameshift variant	-/A	delins			1
rs527236033	RAI1	1.000	0.080	17	17795221	stop gained	G/A	snv			1
rs1569351529	SMS	1.000	0.080	X	21978035	missense variant	T/G	snv			1