DisGeNET - a database of gene-disease associations

List of associated variants

Severe combined immunodeficiency with sensitivity to ionizing radiation, C1865370

Source: ALL

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
rs587777685	PRKDC	0.882	0.120	8	47820870	missense variant	A/C	snv			3
rs121908156	DCLRE1C	0.925	0.120	10	14945110	stop gained	G/A;T	snv	1.2E-05; 4.0E-06		2
rs121908157	DCLRE1C	0.925	0.120	10	14934461	stop gained	G/A;T	snv	4.0E-06		2
rs786200884	DCLRE1C	0.925	0.120	10	14909131	frameshift variant	TCTACAA/-	delins			2
rs1564414523	DCLRE1C	1.000	0.120	10	14926842	splice donor variant	C/G	snv			1
rs1564418254	DCLRE1C	1.000	0.120	10	14928015	splice donor variant	C/T	snv			1
rs1564446526	DCLRE1C	1.000	0.120	10	14936537	splice donor variant	C/A	snv			1
rs786205074	DCLRE1C	1.000	0.120	10	14932853	splice donor variant	C/-	delins			1
rs886037924	DCLRE1C	1.000	0.120	10	14908817	frameshift variant	-/T	delins			1
rs886037925	DCLRE1C	1.000	0.120	10	14945157	missense variant	G/A	snv			1