Source: ALL

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: rs121908952
rs121908952
PAPSS2
1.000 0.120 10 87727403 stop gained C/T snv 3.6E-05 1.4E-05
CUI: C2748515
Disease: Spondyloepimetaphyseal Dysplasia, Pakistani Type
Spondyloepimetaphyseal Dysplasia, Pakistani Type 		0.710 1.000 2 2009 2013
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
dbSNP: rs797045099
rs797045099
PAPSS2
1.000 0.120 10 87745166 frameshift variant ATTCC/- delins
CUI: C2748515
Disease: Spondyloepimetaphyseal Dysplasia, Pakistani Type
Spondyloepimetaphyseal Dysplasia, Pakistani Type 		0.700 1.000 5 1998 2013
dbSNP: rs121908950
rs121908950
PAPSS2
1.000 0.120 10 87743589 stop gained C/A snv
CUI: C2748515
Disease: Spondyloepimetaphyseal Dysplasia, Pakistani Type
Spondyloepimetaphyseal Dysplasia, Pakistani Type 		0.700 0
dbSNP: rs1471554906
rs1471554906
PAPSS2
1.000 0.120 10 87715027 frameshift variant TT/- delins
CUI: C2748515
Disease: Spondyloepimetaphyseal Dysplasia, Pakistani Type
Spondyloepimetaphyseal Dysplasia, Pakistani Type 		0.700 0
dbSNP: rs374379931
rs374379931
PAPSS2
1.000 0.080 10 87713151 stop gained C/G snv 2.0E-05 4.2E-05
CUI: C0432228
Disease: Brachyolmia
Brachyolmia 		0.700 0
dbSNP: rs606231241
rs606231241
PAPSS2
1.000 0.120 10 87713265 frameshift variant -/G delins
CUI: C2748515
Disease: Spondyloepimetaphyseal Dysplasia, Pakistani Type
Spondyloepimetaphyseal Dysplasia, Pakistani Type 		0.700 0
dbSNP: rs606231242
rs606231242
PAPSS2
1.000 0.120 10 87714838 frameshift variant GTAGTGGAACTTCTGCAAG/- delins
CUI: C2748515
Disease: Spondyloepimetaphyseal Dysplasia, Pakistani Type
Spondyloepimetaphyseal Dysplasia, Pakistani Type 		0.700 0
dbSNP: rs606231243
rs606231243
PAPSS2
1.000 0.120 10 87714137 frameshift variant -/CGTA delins
CUI: C2748515
Disease: Spondyloepimetaphyseal Dysplasia, Pakistani Type
Spondyloepimetaphyseal Dysplasia, Pakistani Type 		0.700 0
dbSNP: rs786200933
rs786200933
PAPSS2
1.000 0.120 10 87743455 frameshift variant AG/- delins
CUI: C2748515
Disease: Spondyloepimetaphyseal Dysplasia, Pakistani Type
Spondyloepimetaphyseal Dysplasia, Pakistani Type 		0.700 0
dbSNP: rs786200934
rs786200934
PAPSS2
1.000 0.120 10 87715005 frameshift variant A/- delins
CUI: C2748515
Disease: Spondyloepimetaphyseal Dysplasia, Pakistani Type
Spondyloepimetaphyseal Dysplasia, Pakistani Type 		0.700 0