DisGeNET - a database of gene-disease associations

List of associated variants

Warburg Sjo Fledelius syndrome, C1838625

Source: CLINVAR ×

Results per page

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
rs797045905	ZRANB3 ; RAB3GAP1	0.851	0.360	2	135164629	stop gained	T/G	snv			5
rs1064794536	RAB3GAP1	1.000	0.320	2	135115363	frameshift variant	-/C	ins	4.0E-06		1
rs1553444644	RAB3GAP1	1.000	0.320	2	135113216	frameshift variant	-/T	delins			1
rs1553444935	RAB3GAP1	1.000	0.320	2	135115293	missense variant	G/C	snv			1
rs1558782178	RAB3GAP1	1.000	0.320	2	135113257	stop gained	G/T	snv			1
rs1558792168	RAB3GAP1	1.000	0.320	2	135132893	splice acceptor variant	A/G	snv			1
rs1558792256	RAB3GAP1	1.000	0.320	2	135132968	stop gained	C/G	snv			1
rs267606996	RAB3GAP1	1.000	0.320	2	135133944	stop gained	C/A	snv			1
rs532964185	RAB3GAP1	1.000	0.320	2	135130060	stop gained	C/T	snv	3.2E-05	7.0E-06	1
rs587776651	RAB3GAP1	1.000	0.320	2	135120919	splice donor variant	G/A	snv			1
rs587777152	RAB3GAP1	1.000	0.320	2	135126250	splice donor variant	G/A	snv	2.0E-05	2.1E-05	1
rs587777154	RAB3GAP1	1.000	0.320	2	135052463	missense variant	A/C	snv			1
rs587777155	RAB3GAP1	1.000	0.320	2	135052482	missense variant	A/T	snv			1
rs730882183	RAB3GAP1	1.000	0.320	2	135120817	splice acceptor variant	A/G	snv			1
rs730882184	RAB3GAP1	1.000	0.320	2	135091111	frameshift variant	AAAGGAT/TTATTA	delins			1
rs766629205	RAB3GAP1	1.000	0.320	2	135130030	stop gained	C/T	snv	1.2E-05	1.4E-05	1
rs137853052	RAB3GAP1 ; ZRANB3	1.000	0.320	2	135150456	stop gained	C/G;T	snv	4.0E-06		1
rs1553450718	RAB3GAP1 ; ZRANB3	1.000	0.320	2	135168700	frameshift variant	-/TTCT	ins			1
rs587777153	RAB3GAP1 ; ZRANB3	1.000	0.320	2	135150477	frameshift variant	-/GCTCTCAGATATGGAGTCT	delins			1
rs730882182	RAB3GAP1 ; ZRANB3	1.000	0.320	2	135168632	frameshift variant	C/-	delins			1
rs137853053	SNORA40B ; RAB3GAP1	1.000	0.320	2	135135743	stop gained	G/A	snv			1
rs1558805900	ZRANB3 ; RAB3GAP1	1.000	0.320	2	135162986	stop gained	G/T	snv			1