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: rs1569119395
rs1569119395
0.925 0.120 22 45949926 stop gained G/A snv
ANOPHTHALMIA AND PULMONARY HYPOPLASIA
Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases 0.700 0