Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1057518821
SLC2A1
1.000 1 42930671 frameshift variant -/C delins 5
rs1553156053
SLC2A1
1.000 1 42929652 stop gained G/A snv 3
rs1413339367
SLC2A1
1 42930661 stop gained G/A snv 1
rs1057518953
SLC2A1
1 42930742 missense variant C/T snv 1
rs1557646893
SLC2A1
1.000 1 42931205 splice acceptor variant -/CC delins 1
rs796053263
SLC2A1
1.000 1 42927685 missense variant G/A snv 1
rs869312673
SLC2A1
1.000 1 42930036 splice acceptor variant C/G;T snv 1
rs1553156051
SLC2A1
1.000 1 42929625 stop gained G/A snv 1
rs1553155887
SLC2A1
1.000 1 42927704 frameshift variant T/- delins 1
rs1553156199
SLC2A1
1.000 1 42931093 frameshift variant -/C delins 1
rs387907313
SLC2A1
1.000 1 42929766 missense variant G/A snv 4.0E-06 1
rs398123069
SLC2A1
1.000 1 42927651 missense variant T/C snv 1
rs397514564
SLC2A1
1.000 1 42929884 missense variant C/G;T snv 1.2E-05 1
rs202060209
SLC2A1
0.925 0.040 1 42931047 missense variant G/A;T snv 2.4E-05 3
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
rs1553155982
SLC2A1
1.000 0.040 1 42928996 missense variant T/A snv 1
rs80359812
SLC2A1
1.000 0.040 1 42943239 missense variant T/A snv 1
rs267607060
SLC2A1
1.000 0.040 1 42930858 missense variant GA/AT mnv 1
rs1553156047
SLC2A1
1.000 0.040 1 42929605 inframe deletion AGACAGCTGCTG/- del 1
rs796053253
SLC2A1
0.925 0.040 1 42929211 missense variant G/A snv 1
rs1557644984
SLC2A1
0.925 0.080 1 42927622 missense variant A/G snv 5
rs80359816
SLC2A1
0.882 0.080 1 42930765 missense variant C/A;T snv 2
rs80359819
SLC2A1
0.925 0.080 1 42930754 missense variant C/G;T snv 1
rs267607059
SLC2A1
0.925 0.080 1 42927118 missense variant G/A snv 1