DisGeNET - a database of gene-disease associations

List of associated variants

Spondyloepimetaphyseal Dysplasia, Pakistani Type, C2748515

Source: CLINVAR ×

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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
rs121908950	PAPSS2	1.000	0.120	10	87743589	stop gained	C/A	snv			1
rs121908951	PAPSS2	1.000	0.120	10	87709311	missense variant	C/G	snv			1
rs121908952	PAPSS2	1.000	0.120	10	87727403	stop gained	C/T	snv	3.6E-05	1.4E-05	1
rs1471554906	PAPSS2	1.000	0.120	10	87715027	frameshift variant	TT/-	delins			1
rs606231241	PAPSS2	1.000	0.120	10	87713265	frameshift variant	-/G	delins			1
rs606231242	PAPSS2	1.000	0.120	10	87714838	frameshift variant	GTAGTGGAACTTCTGCAAG/-	delins			1
rs606231243	PAPSS2	1.000	0.120	10	87714137	frameshift variant	-/CGTA	delins			1
rs786200933	PAPSS2	1.000	0.120	10	87743455	frameshift variant	AG/-	delins			1
rs786200934	PAPSS2	1.000	0.120	10	87715005	frameshift variant	A/-	delins			1
rs797045099	PAPSS2	1.000	0.120	10	87745166	frameshift variant	ATTCC/-	delins			1