DisGeNET - a database of gene-disease associations

List of associated variants

Choreoathetosis, C0085583

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
rs780533096	MIPEP	0.701	0.600	13	23886338	missense variant	C/G;T	snv	4.8E-06; 9.6E-06		44
rs587782995	PURA	0.708	0.360	5	140114480	missense variant	T/C	snv			42
rs1555968941	CACNA1C	0.752	0.280	12	2653847	missense variant	G/A;C	snv			31
rs1555731819	KMT2B	0.807	0.200	19	35729980	missense variant	G/T	snv			26
rs1448259271	IRF2BPL ; LOC107984638	0.790	0.240	14	77027279	stop gained	C/A;T	snv			23
rs1555377415	IRF2BPL ; LOC107984638	0.827	0.200	14	77027274	stop gained	G/C	snv			18
rs1064797245	ATP1A3	0.776	0.280	19	41970540	missense variant	G/A	snv			12
rs1555228665	SCN8A	0.882	0.080	12	51788702	missense variant	T/C	snv			4
rs386833583	GLDC	0.882	0.200	9	6610222	missense variant	G/A	snv			3