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: rs34166473
rs34166473
HBD
6 0.827 0.320 11 5234513 5 prime UTR variant A/G snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs34500389
rs34500389
HBB
4 0.851 0.280 11 5227103 5 prime UTR variant G/A;T snv 0.010 1.000 1 2015 2015
dbSNP: rs34598529
rs34598529
HBB
14 0.724 0.280 11 5227100 5 prime UTR variant T/C snv 8.9E-04 0.010 1.000 1 2015 2015
dbSNP: rs35036378
rs35036378
ESR2
5 0.851 0.200 14 64294403 5 prime UTR variant A/C snv 7.0E-03 0.010 1.000 1 2015 2015
dbSNP: rs35518301
rs35518301
HBD
6 0.827 0.200 11 5234514 5 prime UTR variant T/C snv 0.010 1.000 1 2015 2015
dbSNP: rs367732974
rs367732974
F7
9 0.790 0.360 13 113105788 5 prime UTR variant G/A snv 8.9E-05 2.8E-05 0.010 1.000 1 2015 2015
dbSNP: rs397509430
rs397509430
HBB
3 0.882 0.200 11 5227101 5 prime UTR variant A/- del 0.010 1.000 1 2015 2015
dbSNP: rs549591993
rs549591993
F7
12 0.776 0.400 13 113105794 5 prime UTR variant C/A snv 4.0E-04 2.8E-05 0.010 1.000 1 2015 2015
dbSNP: rs55971303
rs55971303
BRCA1
4 0.851 0.120 17 43104138 missense variant G/T snv 1.0E-04 4.2E-05 0.010 1.000 1 2015 2015
dbSNP: rs56187033
rs56187033
BRCA1
4 0.851 0.200 17 43099786 missense variant T/C snv 2.6E-04 2.9E-04 0.010 1.000 1 2018 2018
dbSNP: rs562962093
rs562962093
MBL2
13 0.742 0.520 10 52771740 upstream gene variant T/C snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs63750953
rs63750953
HBB
10 0.790 0.400 11 5227097 5 prime UTR variant TT/- delins 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs6504950
rs6504950
STXBP4
7 0.807 0.120 17 54979110 intron variant G/A snv 0.29 0.010 1.000 1 2011 2011
dbSNP: rs72661131
rs72661131
MBL2
15 0.742 0.480 10 52771739 upstream gene variant A/G snv 7.6E-04 0.010 1.000 1 2015 2015
dbSNP: rs786203411
rs786203411
BRCA2
2 0.925 0.120 13 32398582 missense variant A/G snv 7.0E-06 0.010 < 0.001 1 2003 2003
dbSNP: rs9282861
rs9282861
SULT1A1
31 0.658 0.440 16 28606193 missense variant C/T snv 0.010 1.000 1 2014 2014
dbSNP: rs9383938
rs9383938
ESR1
5 0.827 0.160 6 151666222 intron variant G/T snv 0.11 0.010 1.000 1 2011 2011
dbSNP: rs999737
rs999737
RAD51B
8 0.776 0.200 14 68567965 intron variant C/T snv 0.16 0.010 1.000 1 2016 2016