Source: ALL
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
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome 		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: rs121912670
rs121912670 		0.925 0.120 2 232542992 missense variant C/T snv 1.6E-05 1.4E-05
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
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
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
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: rs267606726
rs267606726 		0.925 0.120 2 232540681 missense variant T/G snv
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 0
dbSNP: rs797044677
rs797044677 		1.000 2 232540049 frameshift variant -/C delins
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 5 2006 2016
dbSNP: rs797044677
rs797044677 		1.000 2 232540049 frameshift variant -/C delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 5 2006 2016
dbSNP: rs1881492
rs1881492 		1.000 2 232542288 intron variant T/C;G snv
CUI: C4025843
Disease: Abnormality of refraction
Abnormality of refraction 		0.700 1.000 1 2013 2013
dbSNP: rs1881492
rs1881492 		1.000 2 232542288 intron variant T/C;G snv
CUI: C0034951
Disease: Refractive Errors
Refractive Errors 		Eye Diseases 0.700 1.000 1 2013 2013
dbSNP: rs267606725
rs267606725 		1.000 0.120 2 232539760 stop gained C/T snv
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 1 2006 2006
dbSNP: rs747067203
rs747067203 		1.000 0.120 2 232541424 frameshift variant CT/- del 7.6E-05 1.0E-04
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 1 2006 2006
dbSNP: rs121912671
rs121912671 		1.000 0.120 2 232545570 stop gained C/T snv 1.2E-05
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs121912672
rs121912672 		1.000 0.120 2 232540072 stop gained C/T snv 5.6E-05; 4.0E-06 2.8E-05
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs1553578312
rs1553578312 		1.000 0.120 2 232544541 stop gained C/T snv
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
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
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome 		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
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
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: rs765746795
rs765746795 		1.000 0.120 2 232541451 missense variant C/G snv 8.0E-06 7.0E-06
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome 		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
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome 		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
CUI: C1854678
Disease: MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE
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: rs774279192
rs774279192 		1.000 0.120 2 232541481 frameshift variant -/A delins 3.5E-04 4.7E-04
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs777219451
rs777219451 		2 232540617 missense variant C/T snv 1.6E-05 7.0E-06
CUI: C0031117
Disease: Peripheral Neuropathy
Peripheral Neuropathy 		Nervous System Diseases 0.700 0
dbSNP: rs863223313
rs863223313 		1.000 0.120 2 232540660 inframe insertion -/AGGGTGCCG delins
CUI: C0265261
Disease: Multiple pterygium syndrome
Multiple pterygium syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 0