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: rs6738440
rs6738440
1.000 0.080 2 60495106 intron variant A/G snv 0.26
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination
0.800 1.000 2 2011 2012
dbSNP: rs7482144
rs7482144
0.882 0.280 11 5254939 3 prime UTR variant G/A snv
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination
0.700 1.000 2 2007 2011
dbSNP: rs7557939
rs7557939
1.000 0.080 2 60494212 intron variant G/A snv 0.64
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination
0.800 1.000 2 2007 2011
dbSNP: rs7584113
rs7584113
1.000 0.080 2 60494176 intron variant A/G snv 0.64
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination
0.800 1.000 2 2007 2011
dbSNP: rs7937649
rs7937649
11 5201149 upstream gene variant G/A;T snv
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination
0.700 1.000 2 2008 2011
dbSNP: rs840716
rs840716
11 4932232 intron variant G/T snv 8.3E-02
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination
0.700 1.000 2 2008 2011
dbSNP: rs888082
rs888082
2 60402474 intron variant G/A snv 0.48
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination
0.700 1.000 2 2007 2008
dbSNP: rs925483
rs925483
2 60384150 intron variant G/A snv 0.29
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination
0.700 1.000 2 2007 2008
dbSNP: rs968856
rs968856
HBD
11 5239346 intron variant T/C snv 0.46
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination
0.700 1.000 2 2008 2011
dbSNP: rs1003586
rs1003586
HBB
11 5228140 intron variant C/T snv 0.13
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination
0.700 1.000 1 2008 2008
dbSNP: rs10184550
rs10184550
2 60502159 intron variant G/A snv 0.56
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination
0.700 1.000 1 2012 2012
dbSNP: rs10189857
rs10189857
1.000 0.080 2 60486100 intron variant A/G snv 0.42
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination
0.800 1.000 1 2011 2011
dbSNP: rs1044392
rs1044392
11 5514441 3 prime UTR variant A/G snv 0.35
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination
0.700 1.000 1 2008 2008
dbSNP: rs10768980
rs10768980
11 5470803 intron variant C/G snv 0.55
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination
0.700 1.000 1 2008 2008
dbSNP: rs10835979
rs10835979
11 4374955 upstream gene variant G/A snv 0.88
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination
0.700 1.000 1 2008 2008
dbSNP: rs10836955
rs10836955
11 4924401 intron variant G/A snv 0.15
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination
0.700 1.000 1 2008 2008
dbSNP: rs10837104
rs10837104
11 4997987 intron variant C/G snv 0.30
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination
0.700 1.000 1 2008 2008
dbSNP: rs10837107
rs10837107
11 4998127 intron variant T/C snv 0.29
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination
0.700 1.000 1 2008 2008
dbSNP: rs10837108
rs10837108
11 4998887 5 prime UTR variant C/G;T snv
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination
0.700 1.000 1 2008 2008
dbSNP: rs10837513
rs10837513
11 5179410 upstream gene variant G/T snv 0.70
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination
0.700 1.000 1 2008 2008
dbSNP: rs10837593
rs10837593
11 5210667 downstream gene variant C/T snv 0.79
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination
0.700 1.000 1 2008 2008
dbSNP: rs10837767
rs10837767
11 5296323 intron variant T/G snv 0.51
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination
0.700 1.000 1 2008 2008
dbSNP: rs10838245
rs10838245
11 5514299 intron variant G/A;C;T snv
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination
0.700 1.000 1 2008 2008
dbSNP: rs10838807
rs10838807
11 5904419 non coding transcript exon variant G/T snv 9.2E-02
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination
0.700 1.000 1 2008 2008
dbSNP: rs11030841
rs11030841
11 4077783 intron variant A/G;T snv
CUI: C0200695
Disease: Fetal hemoglobin determination
Fetal hemoglobin determination
0.700 1.000 1 2008 2008