DisGeNET - a database of gene-disease associations

List of shared variants

Dystonia, C0013421

Disease: Muscular hypotonia of the trunk

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
rs114925667	NPHP3-ACAD11 ; UBA5	0.672	0.520	3	132675903	missense variant	G/A;T	snv	1.9E-03; 4.1E-06		64
rs1553621496	UNC80	0.677	0.440	2	209976305	splice donor variant	T/G	snv			53
rs267606826	FOXG1	0.708	0.520	14	28767903	stop gained	C/A;G;T	snv			38
rs1553770577	NPHP3-ACAD11 ; UBA5	0.724	0.480	3	132675342	missense variant	T/C	snv			37
rs267606670	ATP1A3	0.790	0.320	19	41968837	missense variant	C/A;T	snv			19
rs139455627	TSPEAR	0.851	0.240	21	44531087	stop gained	G/A	snv	3.2E-04	2.7E-04	14
rs1569151872	TSPEAR-AS1 ; TSPEAR	0.851	0.240	21	44509225	frameshift variant	GAC/AA	delins			14
rs1131692231	CYFIP2	0.827	0.280	5	157294834	missense variant	C/T	snv			13