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: rs780263938
rs780263938
0.925 0.120 7 41966347 missense variant G/C snv 8.4E-06
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0