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: rs756636036
rs756636036
1.000 0.080 11 124896308 missense variant C/A;G;T snv 4.0E-06; 2.8E-05
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0