DisGeNET - a database of gene-disease associations

List of associated variants

Multiple pterygium syndrome, C0265261

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
rs121912670	CHRNG	0.925	0.120	2	232542992	missense variant	C/T	snv	1.6E-05	1.4E-05	2
rs267606726	CHRNG	0.925	0.120	2	232540681	missense variant	T/G	snv			2
rs764266722	CHRNG	0.925	0.120	2	232540387	stop gained	C/A;T	snv	8.0E-06; 2.0E-05		2
rs767503038	CHRNG	0.925	0.120	2	232543030	frameshift variant	CT/-	del		2.6E-04	2
rs121912671	CHRNG	1.000	0.120	2	232545570	stop gained	C/T	snv	1.2E-05		1
rs121912672	CHRNG	1.000	0.120	2	232540072	stop gained	C/T	snv	5.6E-05; 4.0E-06	2.8E-05	1
rs267606725	CHRNG	1.000	0.120	2	232539760	stop gained	C/T	snv			1
rs747067203	CHRNG	1.000	0.120	2	232541424	frameshift variant	CT/-	del	7.6E-05	1.0E-04	1
rs765746795	CHRNG	1.000	0.120	2	232541451	missense variant	C/G	snv	8.0E-06	7.0E-06	1
rs774279192	CHRNG	1.000	0.120	2	232541481	frameshift variant	-/A	delins	3.5E-04	4.7E-04	1
rs863223313	CHRNG	1.000	0.120	2	232540660	inframe insertion	-/AGGGTGCCG	delins			1