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: rs397514510
rs397514510
1.000 0.080 11 72233098 missense variant C/T snv
CUI: C0432219
Disease: Opsismodysplasia
Opsismodysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 1 2013 2013
dbSNP: rs397514511
rs397514511
1.000 0.080 11 72230799 missense variant C/T snv
CUI: C0432219
Disease: Opsismodysplasia
Opsismodysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 1 2013 2013
dbSNP: rs397514512
rs397514512
1.000 0.080 11 72233696 stop gained T/A snv
CUI: C0432219
Disease: Opsismodysplasia
Opsismodysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.800 1.000 1 2013 2013
dbSNP: rs397514508
rs397514508
1.000 0.080 11 72233099 missense variant C/T snv
CUI: C0432219
Disease: Opsismodysplasia
Opsismodysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs397514509
rs397514509
1.000 0.080 11 72229116 stop gained C/A;G;T snv 4.0E-06; 1.2E-05
CUI: C0432219
Disease: Opsismodysplasia
Opsismodysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs746647683
rs746647683
1.000 0.080 11 72229677 frameshift variant AG/- del 1.4E-05
CUI: C0432219
Disease: Opsismodysplasia
Opsismodysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs878853123
rs878853123
1.000 0.080 11 72233471 missense variant C/T snv
CUI: C0432219
Disease: Opsismodysplasia
Opsismodysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 1.000 1 2013 2013
dbSNP: rs1135401750
rs1135401750
1.000 0.080 11 72232757 frameshift variant -/T delins
CUI: C0432219
Disease: Opsismodysplasia
Opsismodysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs655423
rs655423
1.000 0.080 11 72234616 splice donor variant G/A;C snv
CUI: C0432219
Disease: Opsismodysplasia
Opsismodysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs797044468
rs797044468
1.000 0.080 11 72229677 frameshift variant A/- del
CUI: C0432219
Disease: Opsismodysplasia
Opsismodysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs797044469
rs797044469
1.000 0.080 11 72228377 frameshift variant AGACC/- delins
CUI: C0432219
Disease: Opsismodysplasia
Opsismodysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0
dbSNP: rs797044470
rs797044470
1.000 0.080 11 72225071 frameshift variant GAGGAGCTGCTGGCCCGGGCGGGCCGCG/- delins
CUI: C0432219
Disease: Opsismodysplasia
Opsismodysplasia
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.700 0