Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1553155986
rs1553155986
SLC2A1
0.827 0.280 1 42929008 missense variant C/T snv
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips 		0.700 0