Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1554612093
rs1554612093
1.000 8 116863196 stop gained T/A snv
CUI: C3553517
Disease: CORNELIA DE LANGE SYNDROME 4
CORNELIA DE LANGE SYNDROME 4
0.700 0
dbSNP: rs1554612096
rs1554612096
1.000 8 116863221 frameshift variant -/AG delins
CUI: C3553517
Disease: CORNELIA DE LANGE SYNDROME 4
CORNELIA DE LANGE SYNDROME 4
0.700 0
dbSNP: rs797045907
rs797045907
1.000 8 116866668 frameshift variant GCTAGCC/- delins
CUI: C3553517
Disease: CORNELIA DE LANGE SYNDROME 4
CORNELIA DE LANGE SYNDROME 4
0.700 0
dbSNP: rs797045908
rs797045908
1.000 8 116857375 frameshift variant -/T delins
CUI: C3553517
Disease: CORNELIA DE LANGE SYNDROME 4
CORNELIA DE LANGE SYNDROME 4
0.700 0
dbSNP: rs797045909
rs797045909
1.000 8 116857361 frameshift variant -/CT delins
CUI: C3553517
Disease: CORNELIA DE LANGE SYNDROME 4
CORNELIA DE LANGE SYNDROME 4
0.700 0
dbSNP: rs863224910
rs863224910
1.000 8 116847588 missense variant A/G snv
CUI: C3553517
Disease: CORNELIA DE LANGE SYNDROME 4
CORNELIA DE LANGE SYNDROME 4
0.700 0
dbSNP: rs387907212
rs387907212
1.000 8 116854279 missense variant G/C snv
CUI: C3553517
Disease: CORNELIA DE LANGE SYNDROME 4
CORNELIA DE LANGE SYNDROME 4
0.800 1.000 1 2012 2012
dbSNP: rs387907213
rs387907213
1.000 8 116847643 missense variant A/G snv
CUI: C3553517
Disease: CORNELIA DE LANGE SYNDROME 4
CORNELIA DE LANGE SYNDROME 4
0.800 1.000 1 2012 2012
dbSNP: rs1563686762
rs1563686762
0.790 0.280 8 116847620 inframe deletion GTT/- delins
CUI: C3553517
Disease: CORNELIA DE LANGE SYNDROME 4
CORNELIA DE LANGE SYNDROME 4
0.700 1.000 1 2019 2019
dbSNP: rs1563687901
rs1563687901
1.000 8 116850687 frameshift variant -/G delins
CUI: C3553517
Disease: CORNELIA DE LANGE SYNDROME 4
CORNELIA DE LANGE SYNDROME 4
0.700 1.000 1 2019 2019
dbSNP: rs1563689416
rs1563689416
1.000 8 116854244 splice donor variant C/T snv
CUI: C3553517
Disease: CORNELIA DE LANGE SYNDROME 4
CORNELIA DE LANGE SYNDROME 4
0.700 1.000 1 2019 2019