DisGeNET - a database of gene-disease associations

Source: ALL

Variants associated to the Disease: Mucopolysaccharidosis, MPS-IV-A ×

Variants associated to the Gene: TRAPPC2L ×

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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
rs866745731	GALNS ; TRAPPC2L ; LOC107983950	1.000	0.120	16	88856835	missense variant	G/T	snv			1
rs755832705	LOC107983950 ; TRAPPC2L ; GALNS	1.000	0.120	16	88856771	missense variant	A/C	snv	2.6E-05		1
rs771531650	LOC107983950 ; TRAPPC2L ; GALNS	1.000	0.120	16	88856877	start lost	T/A;C;G	snv	9.2E-06		1
rs794729202	LOC107983950 ; TRAPPC2L ; GALNS	1.000	0.120	16	88856831	missense variant	A/C;T	snv			1
rs911452920	LOC107983950 ; TRAPPC2L ; GALNS	1.000	0.120	16	88856844	stop gained	G/A	snv			1
rs935071754	TRAPPC2L ; LOC107983950 ; GALNS	1.000	0.120	16	88856873	missense variant	G/A;C	snv			1