DisGeNET - a database of gene-disease associations

List of associated variants

Oropharyngeal Dysphagia, C0267071

Source: ALL

Results per page

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
rs114925667	NPHP3-ACAD11 ; UBA5	0.672	0.520	3	132675903	missense variant	G/A;T	snv	1.9E-03; 4.1E-06		64
rs796052505	GABRG2	0.724	0.440	5	162095551	missense variant	G/A;C	snv			57
rs1553770577	NPHP3-ACAD11 ; UBA5	0.724	0.480	3	132675342	missense variant	T/C	snv			37
rs1060505041	NACC1	0.716	0.400	19	13136099	missense variant	C/A;T	snv			34
rs1559470315	CTNNB1	0.732	0.320	3	41227287	protein altering variant	CCACAAGCAG/T	delins			26
rs1555955296	CDKL5	0.742	0.320	X	18628716	stop gained	C/T	snv			17
rs1569301036	TAF1	0.827	0.240	X	71397354	missense variant	C/T	snv			17
rs782596945	ATP2B3	0.851	0.120	X	153580229	missense variant	G/A;T	snv	5.5E-06		8