EDN3, endothelin 3, 1908

N. diseases: 107; N. variants: 16
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: rs74315384
rs74315384
1.000 0.080 20 59321127 missense variant G/T snv
CUI: C2750457
Disease: Waardenburg Syndrome, Type 4b
Waardenburg Syndrome, Type 4b
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.800 1.000 3 1996 2002
dbSNP: rs752400458
rs752400458
1.000 0.080 20 59321031 missense variant A/G snv 4.0E-06
CUI: C2750457
Disease: Waardenburg Syndrome, Type 4b
Waardenburg Syndrome, Type 4b
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 1.000 3 1996 2002
dbSNP: rs745795470
rs745795470
1.000 0.080 20 59301650 missense variant C/A snv 2.0E-05
CUI: C2750457
Disease: Waardenburg Syndrome, Type 4b
Waardenburg Syndrome, Type 4b
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 1.000 2 2010 2016
dbSNP: rs1568823517
rs1568823517
1.000 0.080 20 59301619 frameshift variant GC/T delins
CUI: C2750457
Disease: Waardenburg Syndrome, Type 4b
Waardenburg Syndrome, Type 4b
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 0
dbSNP: rs267606778
rs267606778
1.000 0.080 20 59301692 missense variant A/G snv
CUI: C2750457
Disease: Waardenburg Syndrome, Type 4b
Waardenburg Syndrome, Type 4b
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 0
dbSNP: rs267606779
rs267606779
1.000 0.080 20 59301634 missense variant C/G snv
CUI: C2750457
Disease: Waardenburg Syndrome, Type 4b
Waardenburg Syndrome, Type 4b
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 0
dbSNP: rs74315385
rs74315385
1.000 0.080 20 59321158 stop gained C/A;T snv
CUI: C2750457
Disease: Waardenburg Syndrome, Type 4b
Waardenburg Syndrome, Type 4b
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 0
dbSNP: rs773779627
rs773779627
1.000 0.080 20 59301689 missense variant G/A;T snv 4.0E-06
CUI: C2750457
Disease: Waardenburg Syndrome, Type 4b
Waardenburg Syndrome, Type 4b
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 0
dbSNP: rs977075341
rs977075341
1.000 0.080 20 59301691 missense variant C/A;T snv
CUI: C2750457
Disease: Waardenburg Syndrome, Type 4b
Waardenburg Syndrome, Type 4b
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.700 0