DisGeNET - a database of gene-disease associations

List of associated variants

Bruxism, C0006325

Source: INFERRED ×

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
rs1554888939	EHMT1	0.683	0.640	9	137798823	missense variant	G/T	snv			58
rs1554317002	LOC112267983 ; CDK13	0.724	0.440	7	39950821	frameshift variant	C/-	delins			45
rs28934906	MECP2	0.716	0.320	X	154031355	missense variant	G/A	snv			40
rs28934907	MECP2	0.732	0.320	X	154032268	missense variant	G/A;C	snv			29
rs587783405	CDKL5	0.851	0.160	X	18588021	stop gained	C/T	snv			9
rs267608463	MECP2	0.925	0.120	X	154032206	splice donor variant	C/A;T	snv			5