Source: ALL
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: rs397514564
rs397514564
SLC2A1
1 1.000 1 42929884 missense variant C/G;T snv 1.2E-05 0.800 1.000 4 2009 2015
dbSNP: rs13306758
rs13306758
SLC2A1
6 0.807 0.360 1 42927148 missense variant G/A;T snv 2.8E-03 0.800 0
dbSNP: rs387907313
rs387907313
SLC2A1
1 1.000 1 42929766 missense variant G/A snv 4.0E-06 0.800 0
dbSNP: rs398123069
rs398123069
SLC2A1
1 1.000 1 42927651 missense variant T/C snv 0.800 0
dbSNP: rs142986731
rs142986731
SLC2A1
1 1.000 1 42931142 missense variant G/A snv 2.8E-05 4.2E-05 0.700 1.000 4 2009 2015
dbSNP: rs201815571
rs201815571
SLC2A1
1 1.000 1 42931169 missense variant C/G;T snv 4.0E-06 1.4E-05 0.700 1.000 4 2009 2015
dbSNP: rs796053272
rs796053272
SLC2A1
5 0.827 0.360 1 42943323 splice acceptor variant T/C snv 0.700 1.000 1 2014 2014
dbSNP: rs1187210267
rs1187210267
SLC2A1
1 1.000 1 42931091 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs1557646867
rs1557646867
SLC2A1
5 0.827 0.360 1 42931159 frameshift variant -/T delins 0.700 0
dbSNP: rs796053248
rs796053248
SLC2A1
6 0.807 0.360 1 42929885 missense variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs80359825
rs80359825
SLC2A1
7 0.790 0.360 1 42929009 missense variant G/A snv 0.700 0