ECHS1, enoyl-CoA hydratase, short chain 1, 1892

N. diseases: 93; N. variants: 26
Disease: Multiple congenital anomalies ×
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: rs777218310
rs777218310 		0.925 10 133369907 frameshift variant TA/- delins 1.6E-05 1.3E-04
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities 0.700 1.000 14 2014 2018