rs1555703272, SLC25A10

N. diseases: 4
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.
Decreased activity of mitochondrial complex I
3 0.925 0.080 17 81715568 stop gained A/T snv 0.700 1.000 1 2018 2018
Epileptic encephalopathy
CUI: C0543888
Disease: Epileptic encephalopathy
126 0.925 0.080 17 81715568 stop gained A/T snv 0.700 1.000 1 2018 2018
Infantile muscular hypotonia
CUI: C1860834
Disease: Infantile muscular hypotonia
24 0.925 0.080 17 81715568 stop gained A/T snv 0.700 1.000 1 2018 2018
MITOCHONDRIAL COMPLEX I DEFICIENCY
CUI: C1838979
Disease: MITOCHONDRIAL COMPLEX I DEFICIENCY
31 0.925 0.080 17 81715568 stop gained A/T snv 0.700 1.000 1 2018 2018