Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs878853161
SLC2A1
0.851 0.240 1 42929977 frameshift variant AT/- del 7
rs776095655
SLC2A1
0.827 0.160 1 42927684 missense variant C/A;T snv 4.0E-06 7
rs80359826
SLC2A1
0.807 0.120 1 42929018 stop gained G/A;T snv 4.0E-06 6
rs13306758
SLC2A1
0.807 0.360 1 42927148 missense variant G/A;T snv 2.8E-03 6
rs796053248
SLC2A1
0.807 0.360 1 42929885 missense variant G/A;T snv 4.0E-06 6
rs80359825
SLC2A1
0.790 0.360 1 42929009 missense variant G/A snv 6
rs1057518821
SLC2A1
1.000 1 42930671 frameshift variant -/C delins 5
rs1557644984
SLC2A1
0.925 0.080 1 42927622 missense variant A/G snv 5
rs1553155986
SLC2A1
0.827 0.280 1 42929008 missense variant C/T snv 5
rs796053272
SLC2A1
0.827 0.360 1 42943323 splice acceptor variant T/C snv 5
rs80359818
SLC2A1
0.776 0.360 1 42930766 missense variant G/A snv 5
rs1557646867
SLC2A1
0.827 0.360 1 42931159 frameshift variant -/T delins 5
rs794727870
SLC2A1
0.925 0.160 1 42929244 missense variant G/A;T snv 3
rs1553156053
SLC2A1
1.000 1 42929652 stop gained G/A snv 3
rs202060209
SLC2A1
0.925 0.040 1 42931047 missense variant G/A;T snv 2.4E-05 3
rs794729221
SLC2A1
0.925 0.240 1 42929736 stop gained G/A snv 2
rs387907312
SLC2A1
0.882 0.200 1 42929918 missense variant G/A snv 2
rs267607061
SLC2A1
0.925 0.040 1 42930865 missense variant G/A;T snv 7.0E-06 2
rs121909739
SLC2A1
0.925 0.040 1 42929242 missense variant C/T snv 2
rs121909740
SLC2A1
0.925 0.120 1 42929637 missense variant C/A;T snv 4.0E-06 2
rs80359816
SLC2A1
0.882 0.080 1 42930765 missense variant C/A;T snv 2
rs1413339367
SLC2A1
1 42930661 stop gained G/A snv 1
rs1553155982
SLC2A1
1.000 0.040 1 42928996 missense variant T/A snv 1
rs1057518953
SLC2A1
1 42930742 missense variant C/T snv 1
rs864309514
SLC2A1
1.000 0.280 1 42929603 missense variant C/T snv 1