rs397514612, FARS2

N. diseases: 2
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.
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
CUI: C3554168
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14
15 1.000 6 5613275 missense variant A/T snv 1.6E-05 7.0E-06 0.800 1.000 2 2012 2012
Encephalopathies
CUI: C0085584
Disease: Encephalopathies
64 1.000 6 5613275 missense variant A/T snv 1.6E-05 7.0E-06 0.010 1.000 1 2019 2019