DisGeNET - a database of gene-disease associations

List of shared variants

Autistic Disorder, C0004352

Disease: Muscle hypotonia

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
rs886040971	TRPS1	0.683	0.280	8	115604339	stop gained	G/A;T	snv			56
rs1085307993	GABRB2	0.716	0.440	5	161331056	missense variant	C/T	snv			53
rs113871094	FBN1	0.683	0.320	15	48465820	stop gained	G/A	snv			34
rs61750240	MECP2	0.752	0.240	X	154031020	stop gained	G/A;C	snv	5.5E-06		17
rs797044849	GRIN2B	0.807	0.160	12	13567164	missense variant	C/A;G;T	snv	4.0E-06		17
rs1555740650	PRR12	0.807	0.240	19	49596253	stop gained	G/T	snv			13
rs1567941252	PCGF2	0.807	0.240	17	38739601	missense variant	G/A	snv			10
rs1568507354	RYR1	0.827	0.200	19	38502879	splice acceptor variant	G/A	snv			6
rs81002885	BRCA2	0.827	0.280	13	32316529	splice donor variant	T/A;C;G	snv	4.0E-06		6
rs1057521223	SCN2A	1.000	0.040	2	165373339	stop gained	G/A;T	snv			5