Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2178658
rs2178658
7 87492706 intergenic variant G/C;T snv 0.24
Red cell distribution width determination
0.700 1.000 2 2017 2019
dbSNP: rs2302783
rs2302783
17 68450932 intron variant T/C snv 0.68 0.68
Red cell distribution width determination
0.700 1.000 2 2017 2019
dbSNP: rs2306589
rs2306589
17 36493030 non coding transcript exon variant T/C snv 0.49
Red cell distribution width determination
0.700 1.000 2 2017 2019
dbSNP: rs2578377
rs2578377
5 154033830 missense variant C/T snv 0.68 0.65
Red cell distribution width determination
0.700 1.000 2 2017 2019
dbSNP: rs2608073
rs2608073
3 142934670 non coding transcript exon variant C/T snv 5.7E-02
Red cell distribution width determination
0.700 1.000 2 2016 2019
dbSNP: rs2857078
rs2857078
17 44252803 intron variant A/C snv 0.62
Red cell distribution width determination
0.700 1.000 2 2016 2019
dbSNP: rs2942194
rs2942194
8 23566156 missense variant A/G snv 0.25 0.21
Red cell distribution width determination
0.700 1.000 2 2016 2019
dbSNP: rs3169166
rs3169166
15 78270761 intron variant A/C snv 0.42
Red cell distribution width determination
0.700 1.000 2 2017 2019
dbSNP: rs334
rs334
HBB
0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03
Red cell distribution width determination
0.700 1.000 2 2019 2019
dbSNP: rs34156328
rs34156328
10 45507812 intron variant AAA/-;AA;AAAA;AAAAA delins
Red cell distribution width determination
0.700 1.000 2 2016 2017
dbSNP: rs34540877
rs34540877
19 32599365 intron variant T/C snv 2.0E-02
Red cell distribution width determination
0.700 1.000 2 2016 2017
dbSNP: rs35979828
rs35979828
12 54292096 intron variant C/T snv 5.0E-02
Red cell distribution width determination
0.700 1.000 2 2016 2017
dbSNP: rs360408
rs360408
3 171620779 intron variant T/A snv 0.56
Red cell distribution width determination
0.700 1.000 2 2016 2017
dbSNP: rs368865
rs368865
13 112825506 missense variant A/C;G;T snv 0.76; 4.0E-06
Red cell distribution width determination
0.700 1.000 2 2017 2019
dbSNP: rs3768321
rs3768321
1.000 0.080 1 39570256 intron variant G/T snv 0.14
Red cell distribution width determination
0.700 1.000 2 2016 2019
dbSNP: rs3782123
rs3782123
11 205198 3 prime UTR variant C/A snv 0.61
Red cell distribution width determination
0.700 1.000 2 2016 2019
dbSNP: rs3811444
rs3811444
1 247876149 missense variant C/T snv 0.31 0.26
Red cell distribution width determination
0.700 1.000 2 2017 2019
dbSNP: rs3813356
rs3813356
6 132513379 upstream gene variant C/T snv 0.37
Red cell distribution width determination
0.700 1.000 2 2017 2019
dbSNP: rs429216
rs429216
17 78130123 intron variant T/G snv 0.15
Red cell distribution width determination
0.700 1.000 2 2017 2019
dbSNP: rs4316067
rs4316067
7 33041902 intron variant A/C;G snv 0.34
Red cell distribution width determination
0.700 1.000 2 2017 2019
dbSNP: rs4737010
rs4737010
8 41772929 intron variant G/A snv 0.32
Red cell distribution width determination
0.700 1.000 2 2017 2019
dbSNP: rs556052
rs556052
19 48874179 missense variant G/C snv 0.35 0.45
Red cell distribution width determination
0.700 1.000 2 2017 2019
dbSNP: rs55730005
rs55730005
12 120719733 intron variant C/A;G snv
Red cell distribution width determination
0.700 1.000 2 2017 2019
dbSNP: rs566629828
rs566629828
1 3775434 frameshift variant AGCCTAGGGGCTGTGTC/- delins 9.2E-03
Red cell distribution width determination
0.700 1.000 2 2016 2017
dbSNP: rs5754120
rs5754120
22 32503871 downstream gene variant T/A;C snv
Red cell distribution width determination
0.700 1.000 2 2017 2019