rs1555762722, ETHE1

N. diseases: 1
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 1.000 0.200 19 43511460 missense variant C/T snv 0.700 0