DisGeNET - a database of gene-disease associations

Source: GWASDB

Variants associated to the Gene: ATP6V1G2-DDX39B ×

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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
rs2844509	SNORD84 ; DDX39B-AS1 ; DDX39B ; ATP6V1G2-DDX39B	0.882	0.160	6	31543147	intron variant	A/G	snv		0.23	6
rs9267487	ATP6V1G2-DDX39B ; DDX39B ; DDX39B-AS1	1.000		6	31543573	intron variant	T/C	snv		5.5E-02	4
rs929138	SNORD117 ; DDX39B ; ATP6V1G2-DDX39B	1.000		6	31535921	intron variant	T/C	snv		0.21	4
rs2734583	SNORD117 ; ATP6V1G2-DDX39B ; DDX39B	0.882	0.240	6	31537703	intron variant	A/G	snv		0.10	2
rs2251824	ATP6V1G2-DDX39B ; ATP6V1G2 ; DDX39B	1.000	0.120	6	31544080	intron variant	G/A	snv		0.15	1
rs2071593	ATP6V1G2-DDX39B ; ATP6V1G2 ; DDX39B ; NFKBIL1			6	31545022	3 prime UTR variant	G/A	snv		8.1E-02	1
rs2071591	ATP6V1G2-DDX39B ; ATP6V1G2 ; NFKBIL1	0.925	0.160	6	31548022	intron variant	G/A;C	snv			1
rs2071596	ATP6V1G2-DDX39B ; DDX39B	1.000	0.120	6	31538914	missense variant	G/A	snv	0.20	0.22	1
rs2523512	ATP6V1G2-DDX39B ; DDX39B	1.000	0.120	6	31539024	intron variant	G/A	snv	0.18	0.16	1
rs2516478	ATP6V1G2-DDX39B ; DDX39B	1.000	0.120	6	31530960	intron variant	G/A	snv	0.18	0.16	1
rs933208	ATP6V1G2-DDX39B ; DDX39B	1.000	0.120	6	31538871	synonymous variant	G/T	snv	0.76	0.76	1
rs2071595	ATP6V1G2-DDX39B ; DDX39B			6	31539285	intron variant	G/A;C;T	snv	4.1E-06; 9.9E-02; 4.1E-06		1
rs2239705	ATP6V1G2-DDX39B ; DDX39B ; NFKBIL1 ; ATP6V1G2	1.000	0.120	6	31545625	intron variant	G/A	snv	0.18	0.16	1
rs2523506	DDX39B-AS1 ; SNORD84 ; DDX39B ; ATP6V1G2-DDX39B	1.000	0.120	6	31542190	5 prime UTR variant	G/T	snv	0.17	0.15	1
rs3853601	DDX39B ; ATP6V1G2-DDX39B	1.000	0.080	6	31531826	intron variant	C/G	snv		0.13	1
rs2239709	DDX39B ; ATP6V1G2-DDX39B			6	31539670	intron variant	C/T	snv		8.3E-02	1
rs2523505	DDX39B ; ATP6V1G2-DDX39B ; DDX39B-AS1 ; SNORD84	1.000	0.040	6	31542225	5 prime UTR variant	C/G	snv		7.6E-02	1
rs2075580	DDX39B ; ATP6V1G2-DDX39B ; SNORD117	1.000	0.120	6	31536198	intron variant	G/A;C	snv			1
rs3115537	DDX39B ; MCCD1 ; ATP6V1G2-DDX39B	1.000	0.080	6	31530058	3 prime UTR variant	G/A;C;T	snv			1
rs2523503	NFKBIL1 ; DDX39B ; ATP6V1G2 ; ATP6V1G2-DDX39B	1.000	0.120	6	31545782	non coding transcript exon variant	C/A	snv		0.15	1