DisGeNET - a database of gene-disease associations

List of associated variants

Severe muscular hypotonia, C1839630

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
rs146539065	SEPSECS	0.752	0.240	4	25145092	synonymous variant	C/T	snv	2.8E-05	4.2E-05	34
rs776969714	SEPSECS	0.752	0.240	4	25145129	splice acceptor variant	-/C	delins		4.2E-05	34
rs34757931	VPS11	0.742	0.360	11	119081189	missense variant	T/G	snv	1.2E-04	5.6E-05	26
rs1114167445	SPTBN4	0.851	0.160	19	40504064	stop gained	C/T	snv	8.0E-06		15
rs267607093	SRD5A3	0.851	0.160	4	55359444	stop gained	G/A	snv	4.0E-06		14
rs886041287	TTN ; TTN-AS1	0.882	0.160	2	178535594	frameshift variant	-/GT	delins			8
rs863224880	IGHMBP2	0.925	0.160	11	68906074	stop gained	G/A	snv			7
rs1160978570	IGHMBP2	0.925	0.120	11	68933482	splice donor variant	G/C;T	snv	4.1E-06		5
rs1561498701	SMN1 ; SMN2	1.000	0.080	5	70925150	frameshift variant	-/GGATTCCG	delins			5