ZIC3, Zic family member 3, 7547

N. diseases: 93; N. variants: 19
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: rs147232392
rs147232392
0.882 0.240 X 137566740 missense variant G/A;T snv 2.6E-03
CUI: C0266642
Disease: Situs ambiguus
Situs ambiguus
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.010 1.000 1 2013 2013
dbSNP: rs201398331
rs201398331
0.925 0.120 X 137566789 missense variant C/T snv 1.1E-04 3.7E-05
CUI: C0266642
Disease: Situs ambiguus
Situs ambiguus
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases; Cardiovascular Diseases 0.010 1.000 1 2013 2013