DisGeNET - a database of gene-disease associations

List of associated variants

Short palm, C1843108

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
rs770374710	MAGEL2	0.611	0.560	15	23645747	frameshift variant	G/-;GG	delins			87
rs61753219	PEX6	0.672	0.400	6	42978330	missense variant	G/A	snv	3.6E-05	2.8E-05	64
rs1010184002	PEX6	0.689	0.400	6	42978878	stop gained	C/T	snv		7.0E-06	60
rs1554888939	EHMT1	0.683	0.640	9	137798823	missense variant	G/T	snv			58
rs1569355102	DYRK1A	0.695	0.360	21	37472869	frameshift variant	TAAC/-	delins			51
rs867410737	ATP5F1D	0.708	0.440	19	1242559	missense variant	C/T	snv	6.7E-06		45
rs387907145	ROGDI	0.695	0.440	16	4800548	stop gained	G/A	snv			36
rs786205124	ROGDI	0.701	0.400	16	4798593	frameshift variant	G/-;GGG	delins		3.5E-05	35
rs1294950721	JAG1	0.807	0.360	20	10645355	splice donor variant	C/A;T	snv		7.0E-06	27
rs759191907	LOC105379841 ; ENG	0.776	0.360	9	127825225	splice region variant	A/G	snv	8.0E-06		25
rs1555565492	RAI1	0.776	0.160	17	17795417	frameshift variant	-/G	delins			18
rs1553154130	RERE	0.807	0.280	1	8358231	missense variant	T/A;C	snv			18
rs886041125	ANKRD11	0.807	0.440	16	89284635	frameshift variant	GTTTT/-	delins		7.0E-06	12