Source: ALL
Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Num. diseases
rs1800562
LOC108783645 ; HFE
0.435 0.880 6 26092913 missense variant G/A snv 3.3E-02 3.8E-02 262
rs863223904
ALAS2
0.827 0.200 X 55014829 missense variant C/T snv 6.1E-06 5
rs137852310
ALAS2
0.882 0.120 X 55021095 missense variant A/G snv 3
rs137852311
ALAS2
0.882 0.120 X 55014830 missense variant G/A;T snv 3
rs201062903
ALAS2
0.882 0.120 X 55013527 missense variant G/A snv 1.3E-03 1.2E-03 3
rs1557248142
ALAS2
0.925 0.080 X 55021182 missense variant G/T snv 2
rs892041887
ALAS2 ; APEX2
0.925 0.080 X 55009265 missense variant C/T snv 2
rs1338391423
ALAS2
1.000 0.080 X 55021079 missense variant C/T snv 5.5E-06 1
rs137852299
ALAS2
1.000 0.080 X 55014757 missense variant A/T snv 1
rs137852300
ALAS2
1.000 0.080 X 55015583 missense variant G/C snv 1
rs137852301
ALAS2
1.000 0.080 X 55021195 missense variant G/T snv 1
rs137852302
ALAS2
1.000 0.080 X 55017618 missense variant C/T snv 1
rs137852303
ALAS2
1.000 0.080 X 55017594 missense variant T/G snv 1
rs137852304
ALAS2
1.000 0.080 X 55021176 missense variant C/T snv 1.1E-05 1
rs137852305
ALAS2
1.000 0.080 X 55014953 missense variant G/A snv 1
rs137852307
ALAS2
1.000 0.080 X 55015000 missense variant C/T snv 1
rs137852308
ALAS2
1.000 0.080 X 55021215 missense variant C/A;T snv 1
rs137852309
ALAS2
1.000 0.080 X 55013516 missense variant G/C snv 1
rs185504937
ALAS2
1.000 0.080 X 55020490 missense variant C/T snv 4.4E-04 5.1E-04 1
rs28935484
ALAS2
1.000 0.080 X 55021121 missense variant T/A snv 1
rs863223906
ALAS2 ; APEX2
1.000 0.080 X 55009245 missense variant T/C snv 1
rs137852306
APEX2 ; ALAS2
1.000 0.080 X 55009242 stop lost T/C snv 1
rs145704441
APEX2 ; ALAS2
1.000 0.080 X 55009268 missense variant C/G;T snv 2.3E-03 1