DisGeNET - a database of gene-disease associations

List of associated variants

Autistic Disorder, C0004352

Source: CURATED ×

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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
rs1562127631	IRAK1BP1 ; PHIP	0.742	0.360	6	78961751	frameshift variant	C/-	del			24
rs1057518658	SCN2A	1.000	0.040	2	165331409	frameshift variant	AC/-	del			1
rs1553920379	PPP3CA	0.776	0.160	4	101032294	frameshift variant	-/AGTA	delins			27
rs1057518345	ADNP	0.742	0.400	20	50894172	frameshift variant	ACTA/-	delins			25
rs267608327	MECP2	0.763	0.200	X	154030631	splice acceptor variant	CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/-	delins			25
rs1554210073	PHIP	0.752	0.320	6	79042844	frameshift variant	GT/A	delins			21
rs1562114190	IRAK1BP1 ; PHIP	0.790	0.160	6	78946061	frameshift variant	A/-	delins			21
rs1558373252	LINC01248 ; SOX11	0.790	0.120	2	5693013	frameshift variant	T/-	delins			19
rs1555565492	RAI1	0.776	0.160	17	17795417	frameshift variant	-/G	delins			18
rs1566823361	FGF14	0.742	0.440	13	101726732	frameshift variant	-/G	delins			18
rs1555741826	PRR12	0.776	0.280	19	49601646	frameshift variant	TGCC/-	delins			16
rs1555640521	LAMA1	0.790	0.320	18	6942110	frameshift variant	A/-	delins			15
rs1569525894	SLC9A6	0.790	0.280	X	136040055	frameshift variant	TCTTCCTTAACCACCGC/-	delins			14
rs1562134961	IRAK1BP1 ; PHIP	0.776	0.320	6	78969879	frameshift variant	A/-	delins			13
rs34002892	GNPTAB	0.851	0.200	12	101753470	frameshift variant	GA/-	delins	5.1E-04	3.5E-04	8
rs558269137	FLG ; FLG-AS1	0.851	0.160	1	152312601	frameshift variant	ACTG/-	delins		1.3E-02	8
rs1555453538	POLG ; MIR6766	0.807	0.280	15	89326678	frameshift variant	A/-	delins			7
rs1064794254	UPF3B	0.851	0.120	X	119841185	frameshift variant	CT/-	delins			6
rs1135402760	BRSK2	0.851	0.160	11	1451405	frameshift variant	AG/-	delins			6
rs1566446604	CHD8	0.882	0.080	14	21431511	frameshift variant	GAGAGCTTGGCAGTCCA/-	delins			6
rs1555740394	PRR12	0.882	0.120	19	49595234	frameshift variant	-/ACCACCC	delins			5
rs1568070621	BPTF	1.000	0.040	17	67918746	frameshift variant	AG/-	delins			4
rs1555144459	PKP2	0.925	0.120	12	32841038	frameshift variant	-/A	delins			3
rs62643608	CDKL5	0.882	0.200	X	18575390	frameshift variant	T/-	delins			3
rs1569151204	TCF20	0.925	0.160	22	42213495	frameshift variant	CA/-	delins			2