DisGeNET - a database of gene-disease associations

List of associated variants

Developmental delay (disorder), C0424605

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
rs730882249	AP4M1	0.882	0.120	7	100105981	stop gained	C/T	snv	4.0E-06		6
rs786203986	NALCN	0.925		13	101176371	missense variant	G/A;C	snv	4.3E-06		3
rs200345816	SH2B2 ; CUX1	0.925	0.040	7	102283048	missense variant	C/G;T	snv	6.0E-05; 4.0E-06		3
rs398122855	PRPS1	0.882	0.240	X	107642384	missense variant	G/C	snv			5
rs1554823375	WDR37	0.851	0.160	10	1080454	missense variant	C/T	snv			8
rs104894421	LIG4	0.882	0.200	13	108210436	missense variant	C/A;T	snv	1.2E-05		4
rs80356730	TARDBP	0.807	0.120	1	11022418	missense variant	A/G	snv	8.0E-06		7
rs267607048	SHOC2	0.752	0.560	10	110964362	missense variant	A/G	snv		7.0E-06	16
rs28933386	PTPN11	0.752	0.400	12	112477719	missense variant	A/G	snv	1.2E-05	7.0E-06	15
rs104894884	NDUFA1 ; RNF113A	0.882	0.040	X	119871933	missense variant	G/C	snv			4
rs104894885	NDUFA1 ; RNF113A	0.851	0.120	X	119873312	missense variant	G/A;C	snv			5
rs1135402758	NUP214	1.000		9	131199023	intron variant	T/-	delins			5
rs34832477	TUBGCP2	0.925	0.120	10	133293066	missense variant	G/A	snv	4.0E-04	1.6E-03	3
rs1057518800	GRIN2B			12	13567228	missense variant	C/T	snv			2
rs121908332	KCNK9	0.882	0.240	8	139618677	missense variant	C/G;T	snv			5
rs180177039	BRAF	0.851	0.160	7	140778006	missense variant	T/A;C;G	snv			12
rs121913348	BRAF	0.763	0.480	7	140781617	missense variant	C/A;G;T	snv			20
rs180177035	BRAF	0.752	0.280	7	140801502	missense variant	T/C	snv			35
rs1085307135	PUF60	0.882	0.160	8	143818255	missense variant	C/T	snv			5
rs398123001	PUF60	0.925		8	143818378	missense variant	G/A	snv			4
rs1057517718	CLCN7	0.882	0.160	16	1447498	missense variant	T/C	snv			4
rs28935468	MECP2	0.732	0.240	X	154030912	missense variant	G/A	snv			17
rs28934906	MECP2	0.716	0.320	X	154031355	missense variant	G/A	snv			46
rs179363901	MECP2	0.882	0.120	X	154097661	missense variant	G/A	snv			4
rs1310897090	NBAS	1.000		2	15467394	stop gained	G/A	snv			2