DisGeNET - a database of gene-disease associations

List of associated variants

Severe intellectual disability, C0036857

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
rs752362727	TMEM67	0.716	0.480	8	93786255	missense variant	C/T	snv	2.0E-05		22
rs796052056	TMEM70	0.882	0.240	8	73976397	frameshift variant	-/GT	delins			3
rs1554691658	PTCH1	0.807	0.240	9	95459653	frameshift variant	C/GGGTCCACAACATCT	delins			11
rs869312865	GRIN1 ; LOC105376328	0.827	0.160	9	137156676	missense variant	G/A;C	snv			5
rs796053356	STXBP1	0.882	0.160	9	127663344	missense variant	G/A	snv			4
rs397514627	CAMK2G	0.882	0.160	10	73842486	missense variant	C/A;G	snv			5
rs878853250	SCN8A	0.752	0.360	12	51699663	stop gained	T/A;C	snv			37
rs1555103652	GRIN2B	0.882	0.240	12	13569973	missense variant	A/C	snv			11
rs796051881	PEX5	0.807	0.440	12	7202274	frameshift variant	-/A	delins			9
rs201968272	DDX11	0.925	0.160	12	31089147	missense variant	G/A	snv			3
rs869312873	NALCN	0.925	0.200	13	101089846	splice region variant	C/T	snv		7.0E-06	5
rs1555321402	FOXG1	0.925	0.240	14	28768345	frameshift variant	T/-	delins			3
rs387906739	LOC107984661 ; DYNC1H1	0.882	0.200	14	102039416	missense variant	A/C	snv			3
rs387906740	DYNC1H1	0.882	0.200	14	102002546	missense variant	G/A	snv			3
rs1057518934	HERC2	0.851	0.240	15	28211095	frameshift variant	G/-	delins			8
rs387907145	ROGDI	0.695	0.440	16	4800548	stop gained	G/A	snv			36
rs786205124	ROGDI	0.701	0.400	16	4798593	frameshift variant	G/-;GGG	delins		3.5E-05	35
rs1014959895	PRMT7	0.763	0.360	16	68329105	stop gained	G/C;T	snv	4.0E-06; 1.6E-05		16
rs1251713297	PRMT7	0.776	0.360	16	68355785	stop gained	C/A	snv	8.1E-06		15
rs45514095	TSC2	0.925	0.160	16	2085323	splice donor variant	G/A	snv			2
rs753520553	NAGLU	0.851	0.280	17	42537433	missense variant	A/G	snv	3.2E-05	2.1E-05	10
rs483352897	NAGLU	0.882	0.280	17	42537517	frameshift variant	CGGCCAGGAG/-	delins	1.2E-05	2.8E-05	9
rs730882202	CACNA1G	0.925	0.160	17	50571953	inframe deletion	TTC/-	delins			4
rs1057518848	TCF4	0.827	0.240	18	55229003	frameshift variant	-/ATTG	delins			15
rs1223073957	MED25	0.827	0.240	19	49835897	frameshift variant	C/-	delins	1.2E-05	1.4E-05	12