DisGeNET - a database of gene-disease associations

List of associated variants

Broad thumbs, C0426891

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
rs1555743003	ASXL3	0.701	0.520	18	33740444	splice donor variant	G/A	snv			58
rs1554888939	EHMT1	0.683	0.640	9	137798823	missense variant	G/T	snv			58
rs886040971	TRPS1	0.683	0.280	8	115604339	stop gained	G/A;T	snv			56
rs1553655558	TRIP12	0.752	0.360	2	229830831	frameshift variant	A/-	delins			43
rs121918487	FGFR2	0.716	0.440	10	121517378	missense variant	C/A;G;T	snv			25
rs121908188	SELENON	0.742	0.360	1	25809753	missense variant	G/A;C	snv	1.8E-04		25
rs199564797	SELENON	0.742	0.360	1	25809150	missense variant	G/A	snv	1.2E-05	1.4E-05	25
rs745886248	SELENON	0.742	0.360	1	25811710	missense variant	G/A;C;T	snv	4.3E-06; 4.3E-06; 4.3E-06		25
rs868064163	ACTL6A	1.000	0.040	3	179586552	missense variant	C/T	snv		7.0E-06	13
rs80338758	MED12	0.790	0.400	X	71127367	missense variant	C/A;T	snv			12
rs397517077	CBL	0.851	0.320	11	119278162	splice acceptor variant	AAAG/-	del			10