DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Developmental regression ×

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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
rs387907260	KCTD7	0.776	0.280	7	66633410	missense variant	C/T	snv	4.0E-06	1.4E-05	22
rs377274761	GALC	0.776	0.240	14	87968393	missense variant	C/T	snv	8.0E-06	2.8E-05	20
rs1057518843	GALC	0.790	0.240	14	87988523	missense variant	C/T	snv			19
rs1555955296	CDKL5	0.742	0.320	X	18628716	stop gained	C/T	snv			17
rs1555582065	UBTF ; LOC101926967	0.827	0.160	17	44212851	missense variant	C/T	snv			13
rs587777446	IFIH1	0.807	0.200	2	162273913	missense variant	C/T	snv	4.0E-06		10
rs1057519565	DEAF1	0.851	0.200	11	687941	missense variant	C/T	snv			9
rs1057519465	HEXA	0.925	0.160	15	72346598	stop gained	C/T	snv	4.0E-06		7
rs1057519468	HEXA	0.925	0.160	15	72345518	stop gained	C/T	snv	4.0E-06		6
rs1057519437	EBF3	0.851	0.240	10	129957300	missense variant	C/T	snv			5
rs1057519467	HEXA	0.925	0.160	15	72345540	missense variant	C/T	snv			5
rs1564855725	TPP1	0.882	0.160	11	6617621	splice region variant	C/T	snv			5
rs751486476	CLN6	0.925	0.160	15	68218549	missense variant	C/T	snv	4.0E-06		2
rs796052243	SPATA5	0.695	0.520	4	122934574	inframe deletion	CAA/-	delins			54
rs267608327	MECP2	0.763	0.200	X	154030631	splice acceptor variant	CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/-	delins			25
rs1380822792	NAA15	0.882	0.080	4	139336933	frameshift variant	CTTGA/-	delins			7
rs281864996	GNPTAB	0.807	0.280	12	101764363	frameshift variant	CTTTT/-;CTTTTCTTTT	delins	2.8E-05	7.0E-06	10
rs1057519466	HEXA	0.925	0.160	15	72346307	frameshift variant	G/-	del			7
rs752298579	TANGO2	0.701	0.480	22	20061538	missense variant	G/A	snv	1.4E-04	7.0E-06	48
rs28934906	MECP2	0.716	0.320	X	154031355	missense variant	G/A	snv			40
rs587784347	PLA2G6	0.742	0.280	22	38113561	missense variant	G/A	snv	8.0E-06		38
rs796052686	KCTD7	0.776	0.280	7	66638394	missense variant	G/A	snv	1.2E-05		22
rs727502818	KCNC1	0.790	0.160	11	17772053	missense variant	G/A	snv			20
rs529855742	SGSH	0.827	0.320	17	80214291	missense variant	G/A	snv	1.2E-05	1.4E-05	15
rs28935468	MECP2	0.732	0.240	X	154030912	missense variant	G/A	snv			14