rs80359826, SLC2A1

N. diseases: 7
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 0.807 0.120 1 42929018 stop gained G/A;T snv 4.0E-06 0.700 1.000 1 2000 2000
GLUT1 DEFICIENCY SYNDROME 1
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
35 0.807 0.120 1 42929018 stop gained G/A;T snv 4.0E-06 0.700 1.000 1 2000 2000
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.807 0.120 1 42929018 stop gained G/A;T snv 4.0E-06 0.700 0
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
CUI: C3149117
Disease: GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
19 0.807 0.120 1 42929018 stop gained G/A;T snv 4.0E-06 0.700 0
Mental impairment
CUI: C0683322
Disease: Mental impairment
14 0.807 0.120 1 42929018 stop gained G/A;T snv 4.0E-06 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.807 0.120 1 42929018 stop gained G/A;T snv 4.0E-06 0.700 0
Malnutrition
CUI: C0162429
Disease: Malnutrition
29 0.807 0.120 1 42929018 stop gained G/A;T snv 4.0E-06 0.010 1.000 1 2015 2015