Disease: Jarcho-Levin syndrome ×
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: rs113994160
rs113994160 		0.925 0.080 17 8123096 missense variant G/A snv
CUI: C0265343
Disease: Jarcho-Levin syndrome
Jarcho-Levin syndrome 		Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 0