rs1553155986, SLC2A1

N. diseases: 6
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.
GLUT1 DEFICIENCY SYNDROME 1
CUI: C4551966
Disease: GLUT1 DEFICIENCY SYNDROME 1
35 0.827 0.280 1 42929008 missense variant C/T snv 0.800 1.000 13 1999 2018
DYSTONIA 18 (disorder)
CUI: C1842534
Disease: DYSTONIA 18 (disorder)
19 0.827 0.280 1 42929008 missense variant C/T snv 0.700 1.000 9 2003 2011
GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
CUI: C3149117
Disease: GLUT1 DEFICIENCY SYNDROME 1, AUTOSOMAL RECESSIVE
19 0.827 0.280 1 42929008 missense variant C/T snv 0.700 1.000 6 2001 2015
Cleft lip or lips
CUI: C4321245
Disease: Cleft lip or lips
37 0.827 0.280 1 42929008 missense variant C/T snv 0.700 0
Otitis Media
CUI: C0029882
Disease: Otitis Media
8 0.827 0.280 1 42929008 missense variant C/T snv 0.700 0
Uranostaphyloschisis
CUI: C2981150
Disease: Uranostaphyloschisis
75 0.827 0.280 1 42929008 missense variant C/T snv 0.700 0