WNT3A, Wnt family member 3A, 89780

N. diseases: 141; N. variants: 5
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: rs708122
rs708122
1 228029296 intron variant C/A snv 0.28
CUI: C0005612
Disease: Birth Weight
Birth Weight
Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2019 2019
dbSNP: rs145882986
rs145882986
1.000 0.080 1 228050906 synonymous variant C/T snv 6.7E-04 5.4E-04
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs192966556
rs192966556
1.000 0.080 1 228022684 missense variant C/T snv 8.0E-06
CUI: C0019569
Disease: Hirschsprung Disease
Hirschsprung Disease
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases 0.010 1.000 1 2014 2014
dbSNP: rs3121310
rs3121310
1.000 1 228037123 intron variant A/G snv 0.61
Cleft Lip with or without Cleft Palate
0.010 1.000 1 2018 2018
dbSNP: rs763783027
rs763783027
1.000 0.080 1 228022688 synonymous variant G/A snv 4.0E-06
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
Nutritional and Metabolic Diseases; Nervous System Diseases 0.010 1.000 1 2012 2012