Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs200207721
rs200207721
2 6 154039743 missense variant A/G snv 1.2E-05 1.4E-05 0.010 1.000 1 2010 2010
dbSNP: rs28935468
rs28935468
17 0.732 0.240 X 154030912 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs3813034
rs3813034
8 0.827 0.160 17 30197786 3 prime UTR variant A/C snv 0.40 0.010 1.000 1 2010 2010
dbSNP: rs4778889
rs4778889
24 0.683 0.480 15 81296654 intron variant T/C snv 0.24 0.010 1.000 1 2010 2010
dbSNP: rs61748421
rs61748421
9 0.807 0.200 X 154031326 stop gained G/A;T snv 0.010 1.000 1 2010 2010
dbSNP: rs61751364
rs61751364
4 0.882 0.120 X 154030944 frameshift variant CGGAT/- delins 0.010 1.000 1 2010 2010
dbSNP: rs769540300
rs769540300
8 0.851 0.200 6 154091047 missense variant G/A snv 1.2E-05 0.010 1.000 1 2010 2010
dbSNP: rs769854785
rs769854785
1 1 156871656 synonymous variant C/T snv 0.010 1.000 1 2010 2010
dbSNP: rs77114424
rs77114424
2 6 154039497 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs893924483
rs893924483
23 0.716 0.280 11 27658285 missense variant C/A;T snv 4.0E-06 1.4E-05 0.010 1.000 1 2010 2010
dbSNP: rs941601
rs941601
1 14 94305204 intron variant C/T snv 0.19 0.010 1.000 1 2010 2010
dbSNP: rs748653984
rs748653984
2 1.000 0.080 1 156868159 missense variant T/A;C snv 4.0E-06; 4.0E-06 0.020 1.000 2 2010 2011
dbSNP: rs778056858
rs778056858
2 1.000 0.080 1 156866944 missense variant T/C snv 8.0E-06 7.0E-06 0.020 1.000 2 2010 2011
dbSNP: rs12948783
rs12948783
1 17 76503318 upstream gene variant G/A;C;T snv 0.010 1.000 1 2011 2011
dbSNP: rs17289394
rs17289394
1 13 46899085 upstream gene variant G/A snv 0.33 0.010 1.000 1 2011 2011
dbSNP: rs334
rs334
HBB
35 0.724 0.240 11 5227002 missense variant T/A;C;G snv 3.5E-03 0.010 1.000 1 2011 2011
dbSNP: rs10166942
rs10166942
4 0.925 0.040 2 233916448 upstream gene variant T/C snv 0.40 0.010 1.000 1 2012 2012
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs1799964
rs1799964
47 0.608 0.760 6 31574531 upstream gene variant T/C snv 0.19 0.010 1.000 1 2012 2012
dbSNP: rs1801394
rs1801394
101 0.531 0.840 5 7870860 missense variant A/G snv 0.47 0.45 0.010 1.000 1 2012 2012
dbSNP: rs201059543
rs201059543
2 12 121184366 missense variant C/G;T snv 4.0E-06; 3.6E-05 0.010 1.000 1 2012 2012
dbSNP: rs2053044
rs2053044
5 1.000 0.040 5 148825809 5 prime UTR variant A/G snv 0.59 0.010 1.000 1 2012 2012
dbSNP: rs2295633
rs2295633
7 0.827 0.120 1 46408711 intron variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs2756109
rs2756109
1 10 99798989 intron variant G/T snv 0.53 0.010 1.000 1 2012 2012
dbSNP: rs324419
rs324419
3 0.925 0.120 1 46406314 stop gained T/A;C snv 0.87 0.010 1.000 1 2012 2012