DisGeNET - a database of gene-disease associations

List of shared variants

Chorea, C0008489

Disease: Dystonia

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
rs796052505	GABRG2	0.724	0.440	5	162095551	missense variant	G/A;C	snv			57
rs374052333	NPHP3-ACAD11 ; UBA5	0.763	0.320	3	132671032	stop gained	C/G;T	snv	4.0E-06		27
rs1555731819	KMT2B	0.807	0.200	19	35729980	missense variant	G/T	snv			26
rs796065306	ADCY5	1.000	0.080	3	123319754	missense variant	C/T	snv			4
rs864309484	ADCY5	1.000	0.080	3	123291354	missense variant	A/T	snv			4
rs1554504684	RHOBTB2	1.000		8	23007711	missense variant	G/A	snv			3