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: rs387906668
rs387906668
ACP5 ; ZNF627
1.000 0.120 19 11576839 missense variant G/A snv
CUI: C1842763
Disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION
SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION 		0.800 1.000 2 2011 2011
dbSNP: rs387906672
rs387906672
ACP5 ; ZNF627
1.000 0.120 19 11576376 missense variant A/G snv 4.0E-06
CUI: C1842763
Disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION
SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION 		0.800 1.000 2 2011 2011
dbSNP: rs781050795
rs781050795
ACP5 ; ZNF627
1.000 0.120 19 11576780 missense variant C/T snv 3.2E-05 2.8E-05
CUI: C1842763
Disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION
SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION 		0.800 1.000 2 2011 2011
dbSNP: rs781199182
rs781199182
ACP5 ; ZNF627
1.000 0.120 19 11576335 missense variant C/G;T snv 8.1E-06 7.0E-06
CUI: C1842763
Disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION
SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION 		0.800 1.000 2 2011 2011
dbSNP: rs1449857485
rs1449857485
ACP5 ; ZNF627
1.000 0.120 19 11575204 missense variant T/G snv 4.0E-06
CUI: C1842763
Disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION
SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION 		0.700 1.000 2 2011 2011
dbSNP: rs387906670
rs387906670
ACP5 ; ZNF627
1.000 0.120 19 11575197 missense variant A/G;T snv 8.0E-06
CUI: C1842763
Disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION
SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION 		0.700 1.000 2 2011 2011
dbSNP: rs111931834
rs111931834
ACP5 ; ZNF627
19 11580032 intron variant G/A snv 0.15
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs761798208
rs761798208
ACP5 ; ZNF627
1.000 0.120 19 11575250 stop gained G/T snv 1.2E-05 7.0E-06
CUI: C1842763
Disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION
SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION 		0.700 1.000 1 2011 2011
dbSNP: rs369804864
rs369804864
ACP5 ; ZNF627
1.000 0.120 19 11577187 missense variant G/A snv 2.4E-05 4.9E-05
CUI: C1842763
Disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION
SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION 		0.700 0
dbSNP: rs387906669
rs387906669
ACP5 ; ZNF627
1.000 0.120 19 11576311 stop gained G/A snv 4.0E-06
CUI: C1842763
Disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION
SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION 		0.700 0
dbSNP: rs387906671
rs387906671
ACP5 ; ZNF627
1.000 0.120 19 11575155 inframe deletion TAG/- del 4.0E-06 7.0E-06
CUI: C1842763
Disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION
SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION 		0.700 0
dbSNP: rs878853218
rs878853218
ACP5 ; ZNF627
1.000 0.120 19 11575198 splice acceptor variant TGAAATTCCCAGCCCCACT/- del
CUI: C1842763
Disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION
SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION 		0.700 0
dbSNP: rs879255600
rs879255600
ACP5 ; ZNF627
1.000 0.120 19 11575171 frameshift variant -/G delins 4.0E-06; 4.0E-06
CUI: C1842763
Disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION
SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION 		0.700 0