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: rs11570255
rs11570255
1.000 20 59300861 missense variant G/A;T snv 3.3E-03; 2.9E-05
Low density lipoprotein cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs11570255
rs11570255
1.000 20 59300861 missense variant G/A;T snv 3.3E-03; 2.9E-05
High density lipoprotein measurement
0.700 1.000 1 2012 2012
dbSNP: rs11570255
rs11570255
1.000 20 59300861 missense variant G/A;T snv 3.3E-03; 2.9E-05
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs11570255
rs11570255
1.000 20 59300861 missense variant G/A;T snv 3.3E-03; 2.9E-05
CUI: C0202236
Disease: Triglycerides measurement
Triglycerides measurement
0.700 1.000 1 2012 2012
dbSNP: rs11570255
rs11570255
1.000 20 59300861 missense variant G/A;T snv 3.3E-03; 2.9E-05
CUI: C0428474
Disease: Serum LDL cholesterol measurement
Serum LDL cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs11570255
rs11570255
1.000 20 59300861 missense variant G/A;T snv 3.3E-03; 2.9E-05
CUI: C0428472
Disease: Serum HDL cholesterol measurement
Serum HDL cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs11570324
rs11570324
20 59318198 intron variant A/T snv 1.4E-02
CUI: C1445957
Disease: Serum total cholesterol measurement
Serum total cholesterol measurement
0.700 1.000 1 2012 2012
dbSNP: rs11570255
rs11570255
1.000 20 59300861 missense variant G/A;T snv 3.3E-03; 2.9E-05
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4
0.700 0
dbSNP: rs11570351
rs11570351
1.000 20 59324412 missense variant G/A snv 3.9E-04 1.6E-03
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4
0.700 0
dbSNP: rs1568823467
rs1568823467
1.000 20 59301614 frameshift variant -/G delins
HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 4
0.700 0
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: C3806178
Disease: Spotty hypopigmentation
Spotty hypopigmentation
0.700 0
dbSNP: rs773779627
rs773779627
1.000 0.080 20 59301689 missense variant G/A;T snv 4.0E-06
CUI: C0423318
Disease: Heterochromia iridis
Heterochromia iridis
Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases 0.700 0
dbSNP: rs773779627
rs773779627
1.000 0.080 20 59301689 missense variant G/A;T snv 4.0E-06
CUI: C0344312
Disease: White forelock
White forelock
Skin and Connective Tissue 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: rs773779627
rs773779627
1.000 0.080 20 59301689 missense variant G/A;T snv 4.0E-06
CUI: C0025160
Disease: Megacolon
Megacolon
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
dbSNP: rs372958987
rs372958987
1.000 0.080 20 59324430 missense variant C/A;G;T snv 2.0E-05; 3.6E-05
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 1998 1998
dbSNP: rs868107957
rs868107957
1.000 0.080 20 59301574 missense variant G/A snv 4.0E-06
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 2001 2001