DisGeNET - a database of gene-disease associations

List of shared variants

Autistic Disorder, C0004352

Disease: Delayed speech and language development

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
rs1085307993	GABRB2	0.716	0.440	5	161331056	missense variant	C/T	snv			53
rs1556425596	COL6A1	0.752	0.240	21	45989967	intron variant	C/T	snv			37
rs1562127631	IRAK1BP1 ; PHIP	0.742	0.360	6	78961751	frameshift variant	C/-	del			24
rs1554210073	PHIP	0.752	0.320	6	79042844	frameshift variant	GT/A	delins			21
rs765379963	TMCO1	0.701	0.520	1	165743172	stop gained	G/A	snv	1.2E-05	2.1E-05	19
rs1555741826	PRR12	0.776	0.280	19	49601646	frameshift variant	TGCC/-	delins			16
rs28935468	MECP2	0.732	0.240	X	154030912	missense variant	G/A	snv			14
rs1555740650	PRR12	0.807	0.240	19	49596253	stop gained	G/T	snv			13
rs1568019012	LAMA1	0.790	0.360	18	6985616	stop gained	G/A	snv			13
rs1060499733	DHX30	0.851	0.120	3	47846757	missense variant	A/G	snv			11
rs1562171209	PHIP	0.851	0.160	6	79003821	missense variant	T/C	snv			9
rs1135402760	BRSK2	0.851	0.160	11	1451405	frameshift variant	AG/-	delins			6
rs1555740394	PRR12	0.882	0.120	19	49595234	frameshift variant	-/ACCACCC	delins			5
rs1057519440	GSPT2	1.000	0.040	X	51744647	missense variant	G/A	snv			3