ADD1, adducin 1, 118

N. diseases: 67; N. variants: 11
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: rs4961
rs4961
0.683 0.400 4 2904980 missense variant G/A;T snv 1.2E-05; 0.20
CUI: C0265706
Disease: Gastroschisis
Gastroschisis
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.020 1.000 2 2006 2018
dbSNP: rs1396258746
rs1396258746
0.925 0.120 4 2898474 missense variant G/C snv 4.0E-06 1.4E-05
CUI: C0265706
Disease: Gastroschisis
Gastroschisis
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases 0.010 1.000 1 2006 2006