Source: CLINVAR ×
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs80359825
rs80359825
SLC2A1
6 0.790 0.360 1 42929009 missense variant G/A snv 0.710 1.000 0 2011 2011
dbSNP: rs794729221
rs794729221
SLC2A1
2 0.925 0.240 1 42929736 stop gained G/A snv 0.700 1.000 1 2008 2008
dbSNP: rs1345986424
rs1345986424
SLC2A1
1 0.851 0.160 1 42943291 stop gained C/A;T snv 0.700 0
dbSNP: rs80359819
rs80359819
SLC2A1
1 0.925 0.080 1 42930754 missense variant C/G;T snv 0.700 0