DisGeNET - a database of gene-disease associations

List of shared variants

Pseudo-Hurler Polydystrophy, C0033788

Disease: MUCOLIPIDOSIS II ALPHA/BETA (disorder)

Source: ALL

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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
rs281864996	GNPTAB	0.807	0.280	12	101764363	frameshift variant	CTTTT/-;CTTTTCTTTT	delins	2.8E-05	7.0E-06	10
rs34002892	GNPTAB	0.851	0.200	12	101753470	frameshift variant	GA/-	delins	5.1E-04	3.5E-04	8
rs1555269154	GNPTAB	0.851	0.280	12	101761307	frameshift variant	-/CTTTGTGA	delins			7
rs1060499680	GNPTAB	0.882	0.200	12	101768036	splice donor variant	C/A;T	snv	4.0E-06		6
rs1060499681	GNPTAB	0.882	0.200	12	101764303	frameshift variant	C/-	del			6
rs112543062	GNPTAB	0.851	0.280	12	101770161	missense variant	T/C;G	snv	1.2E-05		6
rs397507562	GNPTAB	0.851	0.240	12	101757311	splice acceptor variant	C/G;T	snv			6
rs751953529	GNPTAB	0.882	0.200	12	101786012	missense variant	C/T	snv	4.0E-06		6
rs1060499679	GNPTAB	0.851	0.280	12	101770496	inframe deletion	GTG/-	delins			5
rs1060499685	GNPTAB	0.882	0.160	12	101764547	frameshift variant	AA/-	delins			5
rs1555271865	GNPTAB	0.925	0.160	12	101786204	frameshift variant	-/T	delins			5
rs546802775	GNPTAB	0.851	0.240	12	101765329	intron variant	TTT/-;TT;TTTT	delins	5.1E-06		5
rs750240374	GNPTAB	0.882	0.240	12	101766103	missense variant	C/T	snv	8.0E-06	7.0E-06	5
rs1060499684	GNPTAB	0.882	0.200	12	101753525	frameshift variant	A/-	del			4
rs1060499688	GNPTAB	0.882	0.200	12	101753399	missense variant	A/G	snv			4
rs1555269488	GNPTAB	0.882	0.200	12	101764241	frameshift variant	-/A	delins			4
rs281864980	GNPTAB	0.851	0.160	12	101766189	missense variant	C/T	snv	1.2E-05	7.0E-06	4
rs1060499687	GNPTAB	0.882	0.160	12	101757657	splice acceptor variant	GC/AT	mnv			3
rs1060499689	GNPTAB	0.925	0.160	12	101753435	missense variant	G/A	snv			3
rs1555268712	GNPTAB	0.882	0.160	12	101757459	coding sequence variant	-/ATTTTAGAACAGTGCTTAATAGACAAAATATTGTAGAATTATAAAAAAGCCAGACCTTTGTGATTACTCTTATACTAAACAAAGGGAGTATGCGTGTACTACTTACCTATATTTGTTTTTGTCCTTATATGCTTTGTGGATTTTGTCAGTTACTGGTTTACAGTTTGTTACTAGACTTTTAGTGACCGGTGGCTATGAGAAAATATAA	delins			3
rs200646278	GNPTAB	0.882	0.160	12	101770429	stop gained	G/A	snv	1.2E-05	7.0E-06	3
rs281865009	GNPTAB	0.882	0.160	12	101761171	stop gained	G/A	snv	4.0E-06	1.4E-05	3
rs281865024	GNPTAB	0.882	0.160	12	101780574	frameshift variant	TCTG/-	delins			3
rs34159654	GNPTAB	0.882	0.160	12	101830666	missense variant	T/G	snv	2.0E-05	7.0E-06	3
rs1327876395	GNPTAB	0.925	0.160	12	101770995	splice donor variant	C/A	snv	4.0E-06		2