DisGeNET - a database of gene-disease associations

Source: CLINVAR

Variants associated to the Disease: Abdomen distended ×

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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
rs1553621496	UNC80	0.677	0.440	2	209976305	splice donor variant	T/G	snv			53
rs200661329	PIGQ	0.708	0.440	16	576255	splice donor variant	G/A;C	snv	5.7E-05		48
rs28934907	MECP2	0.732	0.320	X	154032268	missense variant	G/A;C	snv			29
rs1567705064	G6PC	1.000	0.080	17	42907570	frameshift variant	ATGGTCACATCTA/-	del			8
rs1553785033	SLC2A2	0.882	0.120	3	170998321	missense variant	C/T	snv			6
rs1057520700	WAS	1.000	0.120	X	48685634	splice donor variant	G/A;C;T	snv			3