rs935855792, ETHE1

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Ethylmalonic encephalopathy
CUI: C1865349
Disease: Ethylmalonic encephalopathy
33 0.925 0.240 19 43511436 splice donor variant C/A;G;T snv 8.0E-06 0.700 1.000 2 2004 2008
Choroid plexus cyst
CUI: C0338597
Disease: Choroid plexus cyst
3 0.925 0.240 19 43511436 splice donor variant C/A;G;T snv 8.0E-06 0.700 0
Gross motor development delay
CUI: C1837658
Disease: Gross motor development delay
59 0.925 0.240 19 43511436 splice donor variant C/A;G;T snv 8.0E-06 0.700 0