DisGeNET - a database of gene-disease associations

List of associated variants

22q13.3 Deletion Syndrome, C1853490

Source: CURATED ×

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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
rs738409	PNPLA3	0.557	0.720	22	43928847	missense variant	C/G	snv	0.28	0.22	13
rs1555910162	SHANK3	0.925	0.080	22	50721469	frameshift variant	-/C	delins			5
rs762292772	SHANK3	0.882	0.160	22	50721505	frameshift variant	G/-;GG	delins			4
rs1057519395	SHANK3	1.000	0.080	22	50721861	frameshift variant	TG/-	delins			2
rs1057519406	SHANK3	1.000	0.080	22	50684651	missense variant	G/T	snv			2
rs1555910143	SHANK3	0.925	0.120	22	50721257	frameshift variant	CT/-	del			2
rs1396379503	SHANK3	1.000	0.080	22	50715048	splice donor variant	G/A	snv		7.0E-06	1
rs1555910212	SHANK3	1.000	0.080	22	50721716	frameshift variant	G/-	del			1
rs1569115756	SHANK3	1.000	0.080	22	50721455	frameshift variant	G/-	delins			1
rs397514705	SHANK3	1.000	0.080	22	50678666	missense variant	C/G	snv			1