DisGeNET - a database of gene-disease associations

List of associated variants

Broad forehead, C1849089

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
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
rs878853250	SCN8A	0.752	0.360	12	51699663	stop gained	T/A;C	snv			37
rs1057524820	SCN8A	0.776	0.280	12	51765746	missense variant	G/A;T	snv			33
rs66527965	COL1A1	0.763	0.240	17	50193038	missense variant	C/A;T	snv			31
rs1564919048	FGFR2	0.732	0.280	10	121520106	missense variant	C/A	snv			23
rs1554196416	IRAK1BP1 ; PHIP	0.851	0.200	6	78958551	stop gained	G/A	snv			15
rs1555528356	ANKRD11	0.790	0.360	16	89282836	stop gained	G/A	snv			13
rs763028380	ABCC8	0.851	0.320	11	17453271	missense variant	C/A;G;T	snv	4.0E-06; 1.6E-05		12
rs121918504	FGFR2	0.807	0.120	10	121517460	missense variant	C/A;T	snv	2.4E-05		9
rs281875196	SMARCA2	0.851	0.320	9	2115927	missense variant	G/A;C	snv			9
rs1057516048	NSD1	0.925	0.200	5	177283796	missense variant	A/T	snv			8
rs1561964103	TFAP2B	0.882	0.080	6	50836108	frameshift variant	G/-	delins			7