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: rs786200903
rs786200903
1.000 0.080 19 39507385 frameshift variant G/- del
CUI: C0265343
Disease: Jarcho-Levin syndrome
Jarcho-Levin syndrome
Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0