DisGeNET - a database of gene-disease associations

List of shared variants

Movement Disorders, C0026650

Disease: Global developmental delay

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
rs1085307993	GABRB2	0.716	0.440	5	161331056	missense variant	C/T	snv			53
rs1057519389	EBF3	0.695	0.400	10	129957324	missense variant	C/A;G;T	snv			46
rs201893408	TMEM67	0.695	0.480	8	93795970	missense variant	T/A;C	snv	8.0E-06; 1.5E-04		28
rs1554389088	CAMK2B	0.807	0.160	7	44243526	missense variant	G/A	snv			27
rs1135402761	SYT1	0.827	0.320	12	79448958	missense variant	T/C	snv			11
rs1554504663	RHOBTB2	0.851	0.080	8	23007627	missense variant	G/A	snv			11
rs776095655	SLC2A1	0.827	0.160	1	42927684	missense variant	C/A;T	snv	4.0E-06		8
rs1554121872	CAMK2A	0.882	0.040	5	150250270	missense variant	T/G	snv			7
rs587777585	VARS2	0.882		6	30918851	missense variant	C/G;T	snv	2.4E-05		6
rs144900171	SYT1	0.925		12	79448968	missense variant	C/G;T	snv	1.3E-04	6.2E-04	5
rs1565922388	SYT1	0.925		12	79353599	missense variant	T/A	snv			5
rs1565922395	SYT1	0.925		12	79353602	missense variant	A/G	snv			5
rs1565962725	SYT1	0.925		12	79448953	missense variant	C/A	snv			5