rs794727870, SLC2A1

N. diseases: 3
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 18 (disorder)
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
19 0.925 0.160 1 42929244 missense variant G/A;T snv 0.700 0
Moderate intellectual disability
CUI: C0026351
Disease: Moderate intellectual disability
94 0.925 0.160 1 42929244 missense variant G/A;T snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.925 0.160 1 42929244 missense variant G/A;T snv 0.700 0