DisGeNET - a database of gene-disease associations

List of associated variants

Specific learning disability, C4025790

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
rs1163944538	TMEM94	0.641	0.560	17	75494905	frameshift variant	-/A	delins	4.0E-06		73
rs1352010373	TMEM94	0.641	0.560	17	75489265	splice acceptor variant	G/C	snv			73
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
rs1441937959	EFL1	0.763	0.280	15	82240555	missense variant	T/C	snv	8.2E-06		20
rs397507531	PTPN11	0.752	0.320	12	112473040	missense variant	T/C;G	snv			18
rs774277300	MRE11	0.742	0.360	11	94447276	stop gained	G/A;C;T	snv	2.8E-05; 4.0E-05; 4.0E-06		17
rs1057518914	RPS6KA3	0.790	0.160	X	20193547	missense variant	G/C	snv			14
rs1057519369	NF1	0.790	0.280	17	31340532	frameshift variant	-/G	delins			13
rs1562171209	PHIP	0.851	0.160	6	79003821	missense variant	T/C	snv			9
rs397507542	PTPN11	0.790	0.320	12	112489069	missense variant	G/T	snv			9
rs143814221	GHR	0.882	0.160	5	42711306	missense variant	T/C	snv	2.7E-04	2.3E-04	8
rs863224493	NF1	0.925	0.120	17	31352281	stop gained	G/A	snv			7