DisGeNET - a database of gene-disease associations

List of shared variants

Global developmental delay, C0557874

Disease: Developmental delay (disorder)

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
rs751569508	NCOR1	1.000		17	16194473	missense variant	G/A	snv	2.5E-05	1.4E-05	5
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
rs398122855	PRPS1	0.882	0.240	X	107642384	missense variant	G/C	snv			5
rs121909224	PTEN	0.627	0.560	10	87933147	stop gained	C/G;T	snv	1.2E-05		41
rs398123001	PUF60	0.925		8	143818378	missense variant	G/A	snv			4
rs587780455	SCN8A	0.827	0.160	12	51807116	missense variant	A/G	snv			7
rs200345816	SH2B2 ; CUX1	0.925	0.040	7	102283048	missense variant	C/G;T	snv	6.0E-05; 4.0E-06		3
rs145536528	SLU7	1.000		5	160413521	missense variant	G/A	snv	1.6E-05	3.5E-05	3
rs80356730	TARDBP	0.807	0.120	1	11022418	missense variant	A/G	snv	8.0E-06		7
rs886041459	TUBB3	0.925	0.080	16	89935140	missense variant	C/T	snv			3
rs34832477	TUBGCP2	0.925	0.120	10	133293066	missense variant	G/A	snv	4.0E-04	1.6E-03	3
rs587777585	VARS2	0.882		6	30918851	missense variant	C/G;T	snv	2.4E-05		6
rs1057517846	WWOX	1.000		16	78108446	stop gained	G/A	snv			2