Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs776095655
SLC2A1
0.827 0.160 1 42927684 missense variant C/A;T snv 4.0E-06 7
rs878853161
SLC2A1
0.851 0.240 1 42929977 frameshift variant AT/- del 7
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
rs80359826
SLC2A1
0.807 0.120 1 42929018 stop gained G/A;T snv 4.0E-06 6
rs1553155986
SLC2A1
0.827 0.280 1 42929008 missense variant C/T snv 5
rs1557644984
SLC2A1
0.925 0.080 1 42927622 missense variant A/G snv 5
rs1557646867
SLC2A1
0.827 0.360 1 42931159 frameshift variant -/T delins 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
rs121909740
SLC2A1
0.925 0.120 1 42929637 missense variant C/A;T snv 4.0E-06 2
rs387907312
SLC2A1
0.882 0.200 1 42929918 missense variant G/A snv 2
rs80359816
SLC2A1
0.882 0.080 1 42930765 missense variant C/A;T snv 2
rs1553155973
SLC2A1
1.000 0.080 1 42928964 frameshift variant CAACCCGCCA/- delins 1
rs1553156069
SLC2A1
1.000 0.080 1 42929728 frameshift variant C/- del 1
rs1557646075
SLC2A1
1.000 0.080 1 42929923 inframe deletion TCTCGGGGC/- delins 1
rs1557646673
SLC2A1
1.000 0.080 1 42930842 frameshift variant -/T delins 1
rs267607059
SLC2A1
0.925 0.080 1 42927118 missense variant G/A snv 1
rs587784390
SLC2A1
1.000 0.080 1 42943240 missense variant T/C snv 1
rs587784391
SLC2A1
1.000 0.080 1 42927794 frameshift variant C/- delins 1
rs587784393
SLC2A1
1.000 0.080 1 42943312 splice acceptor variant CGTCAGCTTC/- delins 1
rs587784396
SLC2A1
1.000 0.080 1 42929712 stop gained G/A snv 1
rs587784397
SLC2A1
1.000 0.080 1 42929613 stop gained G/A snv 1
rs80359814
SLC2A1
1.000 0.080 1 42931049 missense variant C/T snv 1