rs387907312, 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.
CHOREOATHETOSIS/SPASTICITY, EPISODIC
CUI: C1832855
Disease: CHOREOATHETOSIS/SPASTICITY, EPISODIC
7 0.882 0.200 1 42929918 missense variant G/A snv 0.800 1.000 1 2011 2011
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
CUI: C3149117
Disease: GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
19 0.882 0.200 1 42929918 missense variant G/A snv 0.700 1.000 1 2011 2011
GLUT1 DEFICIENCY SYNDROME 1
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
35 0.882 0.200 1 42929918 missense variant G/A snv 0.700 0