DisGeNET - a database of gene-disease associations

List of associated variants

Abnormal muscle tone, C0852413

Source: CLINVAR ×

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		62
rs587782995	PURA	0.708	0.360	5	140114480	missense variant	T/C	snv			42
rs1555462347	USP7	0.716	0.520	16	8901028	frameshift variant	CT/-	delins			34
rs374052333	NPHP3-ACAD11 ; UBA5	0.763	0.320	3	132671032	stop gained	C/G;T	snv	4.0E-06		27
rs1565930588	HSPB8	0.882	0.160	12	119193787	frameshift variant	TACTCAACATTTGG/-	del			19
rs1057519439	DNAH7	1.000	0.120	2	195787135	missense variant	A/G	snv			5
rs878853164	KMT5B	1.000	0.160	11	68157849	stop gained	C/A	snv	4.0E-06		5