rs374259530, ADSL

N. diseases: 5
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.
Adenylosuccinate lyase deficiency (disorder)
CUI: C0268126
Disease: Adenylosuccinate lyase deficiency (disorder)
28 0.925 0.200 22 40350018 missense variant T/C snv 3.6E-05 9.1E-05 0.800 1.000 14 1992 2013
Difficulty standing
CUI: C0241237
Disease: Difficulty standing
14 0.925 0.200 22 40350018 missense variant T/C snv 3.6E-05 9.1E-05 0.700 0
Generalized myoclonic seizures
CUI: C4021759
Disease: Generalized myoclonic seizures
8 0.925 0.200 22 40350018 missense variant T/C snv 3.6E-05 9.1E-05 0.700 0
Progressive neurologic deterioration
CUI: C1854838
Disease: Progressive neurologic deterioration
5 0.925 0.200 22 40350018 missense variant T/C snv 3.6E-05 9.1E-05 0.700 0
Severe global developmental delay
CUI: C1837397
Disease: Severe global developmental delay
50 0.925 0.200 22 40350018 missense variant T/C snv 3.6E-05 9.1E-05 0.700 0