rs104893665, SPR

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.
Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency
CUI: C0268468
Disease: Dystonia, Dopa-Responsive, due to Sepiapterin Reductase Deficiency
9 1.000 0.200 2 72888457 missense variant A/G snv 5.6E-05 5.6E-05 0.800 1.000 3 2001 2006
Dystonia
CUI: C0013421
Disease: Dystonia
97 1.000 0.200 2 72888457 missense variant A/G snv 5.6E-05 5.6E-05 0.700 1.000 5 2001 2013