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.
MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)
CUI: C3151513
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 3 (HEPATOCEREBRAL TYPE)
12 0.925 0.080 2 73958201 missense variant G/T snv 4.0E-06 0.700 0
Cystathioninuria
CUI: C0220993
Disease: Cystathioninuria
4 0.925 0.080 2 73958201 missense variant G/T snv 4.0E-06 0.010 1.000 1 2005 2005
Gamma-cystathionase deficiency
CUI: C0268616
Disease: Gamma-cystathionase deficiency
2 0.925 0.080 2 73958201 missense variant G/T snv 4.0E-06 0.010 1.000 1 2005 2005