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: rs137854889
rs137854889
0.742 0.440 1 40290871 frameshift variant T/-;TT delins
Lethal tight skin contracture syndrome (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs267607181
rs267607181
1.000 0.120 1 40271981 stop gained G/A;T snv 1.2E-05; 4.0E-06
Lethal tight skin contracture syndrome (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs281875360
rs281875360
1.000 0.120 1 40258320 frameshift variant A/- delins
Lethal tight skin contracture syndrome (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs281875361
rs281875361
1.000 0.120 1 40258324 frameshift variant -/T delins
Lethal tight skin contracture syndrome (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs281875367
rs281875367
1.000 0.120 1 40270084 frameshift variant -/T delins
Lethal tight skin contracture syndrome (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0
dbSNP: rs786205123
rs786205123
1.000 0.120 1 40270083 frameshift variant AT/- delins
Lethal tight skin contracture syndrome (disorder)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases 0.700 0