rs121918209, DARS2

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.
Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
CUI: C1970180
Disease: Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation
19 1.000 0.080 1 173826692 missense variant A/G snv 0.800 1.000 1 2007 2007