SLC2A1, solute carrier family 2 member 1, 6513

N. diseases: 34; N. variants: 55
Disease: Dysmorphic features ×
Source: CLINVAR ×
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1553156053
rs1553156053 		1.000 1 42929652 stop gained G/A snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 21 1991 2016