rs1553156053, 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.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
617 1.000 1 42929652 stop gained G/A snv 0.700 1.000 21 1991 2016
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
247 1.000 1 42929652 stop gained G/A snv 0.700 1.000 21 1991 2016
Overgrowth
CUI: C1849265
Disease: Overgrowth
93 1.000 1 42929652 stop gained G/A snv 0.700 1.000 21 1991 2016