DisGeNET - a database of gene-disease associations

List of shared variants

Bradykinesia, C0233565

Disease: Muscle Rigidity

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
rs34637584	LRRK2	0.583	0.480	12	40340400	missense variant	G/A	snv	5.3E-04	3.6E-04	78
rs1564045331	XPA	0.716	0.320	9	97687208	inframe deletion	ATTCTT/-	delins			35
rs778543124	XPA	0.716	0.320	9	97675476	frameshift variant	AGTCTTACGGTACA/-	delins	6.8E-05	6.3E-05	35
rs63750687	PSEN1	0.752	0.200	14	73217137	missense variant	C/A;G;T	snv			33
rs1990622		0.742	0.200	7	12244161	downstream gene variant	A/G	snv		0.52	16
rs3173615	TMEM106B	0.807	0.200	7	12229791	missense variant	C/A;G	snv	0.49		12
rs363371		0.882	0.120	10	117226885	TF binding site variant	G/A	snv		0.19	5
rs200660418	LRRK2	1.000	0.040	12	40310449	missense variant	C/A;G;T	snv			3