DisGeNET - a database of gene-disease associations

List of associated variants

Congenital Generalized Lipodystrophy Type 2, C1720863

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
rs137852973	BSCL2 ; HNRNPUL2-BSCL2	0.752	0.200	11	62702493	missense variant	G/A;C	snv		7.0E-06	13
rs137852972	BSCL2 ; HNRNPUL2-BSCL2	0.752	0.240	11	62702499	missense variant	T/C	snv	1.6E-05		10
rs587777606	HNRNPUL2-BSCL2 ; BSCL2 ; LRRN4CL	0.851	0.160	11	62691300	stop gained	G/A	snv	4.0E-06	7.0E-06	6
rs137852975	HNRNPUL2-BSCL2 ; BSCL2	0.851	0.240	11	62692671	stop gained	C/A	snv	2.0E-05	1.4E-05	5
rs587777608	HNRNPUL2-BSCL2 ; BSCL2	0.925	0.120	11	62694685	frameshift variant	ATACG/-	delins			2
rs137852974	LRRN4CL ; BSCL2 ; HNRNPUL2-BSCL2	0.925	0.200	11	62691132	stop gained	G/A	snv	4.0E-06		2
rs786205068	BSCL2 ; GNG3 ; HNRNPUL2-BSCL2	1.000	0.120	11	62705320	frameshift variant	GG/TCC	delins			1
rs1013079991	BSCL2 ; HNRNPUL2-BSCL2	1.000	0.120	11	62692475	splice acceptor variant	T/C	snv			1
rs137852970	BSCL2 ; HNRNPUL2-BSCL2	1.000	0.120	11	62694594	stop gained	G/A	snv	8.0E-06	7.0E-06	1
rs137852971	BSCL2 ; HNRNPUL2-BSCL2	1.000	0.120	11	62692413	missense variant	C/G	snv	4.0E-06; 4.0E-06	7.0E-06	1
rs758843908	BSCL2 ; HNRNPUL2-BSCL2	1.000	0.120	11	62692411	frameshift variant	G/-	delins			1
rs786205071	BSCL2 ; HNRNPUL2-BSCL2	1.000	0.120	11	62694680	frameshift variant	-/T	delins	4.0E-06	7.0E-06	1
rs786205072	BSCL2 ; HNRNPUL2-BSCL2	1.000	0.120	11	62692371	splice region variant	C/T	snv			1
rs879254029	BSCL2 ; HNRNPUL2-BSCL2 ; LRRN4CL	1.000	0.120	11	62691143	splice acceptor variant	T/C	snv			1
rs1565142553	BSCL2 ; LRRN4CL ; HNRNPUL2-BSCL2	1.000	0.120	11	62690523	splice acceptor variant	T/G	snv			1
rs786205073	BSCL2 ; LRRN4CL ; HNRNPUL2-BSCL2	1.000	0.120	11	62691424	splice region variant	G/C	snv			1
rs1057517657	GNG3 ; BSCL2 ; HNRNPUL2-BSCL2	1.000	0.120	11	62705371	missense variant	G/A	snv	4.0E-06		1
rs1057517658	GNG3 ; BSCL2 ; HNRNPUL2-BSCL2	1.000	0.120	11	62705357	frameshift variant	-/AA	delins	4.0E-06		1
rs1057517659	GNG3 ; BSCL2 ; HNRNPUL2-BSCL2	1.000	0.120	11	62705320	frameshift variant	G/TCC	delins			1
rs1565152616	GNG3 ; HNRNPUL2-BSCL2 ; BSCL2	1.000	0.120	11	62705300	splice donor variant	C/A	snv			1
rs1565144468	HNRNPUL2-BSCL2 ; BSCL2	1.000	0.120	11	62692463	missense variant	G/A	snv			1
rs1565144681	HNRNPUL2-BSCL2 ; BSCL2	1.000	0.120	11	62692668	frameshift variant	CT/-	delins			1
rs747297291	HNRNPUL2-BSCL2 ; BSCL2	1.000	0.120	11	62692690	protein altering variant	-/CGG	ins	8.0E-06		1
rs786205069	HNRNPUL2-BSCL2 ; BSCL2	1.000	0.120	11	62694704	frameshift variant	-/TT	delins			1
rs786205070	HNRNPUL2-BSCL2 ; BSCL2	1.000	0.120	11	62694690	frameshift variant	AC/-	del	4.0E-06		1