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: rs121912670
rs121912670
0.925 0.120 2 232542992 missense variant C/T snv 1.6E-05 1.4E-05
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 2 2006 2006
dbSNP: rs267606726
rs267606726
0.925 0.120 2 232540681 missense variant T/G snv
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 0
dbSNP: rs1553578312
rs1553578312
1.000 0.120 2 232544541 stop gained C/T snv
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs764266722
rs764266722
0.925 0.120 2 232540387 stop gained C/A;T snv 8.0E-06; 2.0E-05
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs767503038
rs767503038
0.925 0.120 2 232543030 frameshift variant CT/- del 2.6E-04
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0