Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121908951
rs121908951
PAPSS2
1.000 0.120 10 87709311 missense variant C/G snv
CUI: C2748515
Disease: Spondyloepimetaphyseal Dysplasia, Pakistani Type
Spondyloepimetaphyseal Dysplasia, Pakistani Type 		0.800 1.000 5 1998 2015
dbSNP: rs138943074
rs138943074
PAPSS2
1.000 0.120 10 87715787 missense variant G/A snv 3.2E-04 3.7E-04
CUI: C2748515
Disease: Spondyloepimetaphyseal Dysplasia, Pakistani Type
Spondyloepimetaphyseal Dysplasia, Pakistani Type 		0.700 1.000 5 1998 2015