ETHE1, ETHE1 persulfide dioxygenase, 23474

N. diseases: 46; N. variants: 28
Disease: Choroid plexus cyst ×
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: rs935855792
rs935855792 		0.925 0.240 19 43511436 splice donor variant C/A;G;T snv 8.0E-06
CUI: C0338597
Disease: Choroid plexus cyst
Choroid plexus cyst 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Nervous System Diseases 0.700 0