DisGeNET - a database of gene-disease associations

Source: UNIPROT

Variants associated to the Disease: Spondyloepimetaphyseal Dysplasia, Pakistani Type ×

Variants associated to the Gene: PAPSS2 ×

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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
rs121908951	PAPSS2	1.000	0.120	10	87709311	missense variant	C/G	snv			1
rs138943074	PAPSS2	1.000	0.120	10	87715787	missense variant	G/A	snv	3.2E-04	3.7E-04	1