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: 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: rs5361
rs5361
47 0.623 0.720 1 169731919 missense variant T/G snv 8.3E-02; 8.0E-06 7.8E-02 0.070 1.000 7 1999 2019
dbSNP: rs1800872
rs1800872
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.010 1.000 1 2010 2010
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2010 2010
dbSNP: rs405509
rs405509
30 0.667 0.480 19 44905579 upstream gene variant T/G snv 0.58 0.010 1.000 1 2009 2009
dbSNP: rs6136
rs6136
17 0.752 0.440 1 169594713 missense variant T/G snv 8.2E-02 7.5E-02 0.010 1.000 1 2006 2006
dbSNP: rs1010
rs1010
7 0.807 0.120 2 85581859 3 prime UTR variant T/C;G snv 0.010 1.000 1 2007 2007
dbSNP: rs4252120
rs4252120
PLG
5 0.827 0.080 6 160722576 intron variant T/C;G snv 0.21 0.010 1.000 1 2017 2017
dbSNP: rs5351
rs5351
7 0.807 0.240 13 77901178 synonymous variant T/C;G snv 0.57 0.010 1.000 1 2007 2007
dbSNP: rs877087
rs877087
4 0.882 0.080 15 33582074 intron variant T/C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs662
rs662
157 0.485 0.840 7 95308134 missense variant T/C snv 0.38 0.42 0.060 1.000 6 2001 2019
dbSNP: rs1883832
rs1883832
52 0.581 0.680 20 46118343 5 prime UTR variant T/C snv 0.75 0.80 0.020 1.000 2 2014 2019
dbSNP: rs501120
rs501120
10 0.763 0.240 10 44258419 downstream gene variant T/C snv 0.24 0.020 0.500 2 2012 2013
dbSNP: rs1020608562
rs1020608562
9 0.807 0.160 3 46373738 missense variant T/C snv 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs1126478
rs1126478
LTF
11 0.763 0.240 3 46459723 missense variant T/C snv 0.41 0.51 0.010 1.000 1 2012 2012
dbSNP: rs12347433
rs12347433
3 0.882 0.040 9 115035318 synonymous variant T/C snv 0.23 0.21 0.010 1.000 1 2011 2011
dbSNP: rs1267969615
rs1267969615
ACE
100 0.532 0.760 17 63490960 missense variant T/C snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs12762303
rs12762303
4 0.851 0.080 10 45373723 upstream gene variant T/C snv 0.17 0.010 < 0.001 1 2008 2008
dbSNP: rs1314386070
rs1314386070
9 0.827 0.240 8 90042766 missense variant T/C snv 1.4E-05 0.010 1.000 1 2009 2009
dbSNP: rs13447720
rs13447720
2 0.925 0.040 11 94432160 intron variant T/C snv 0.17 0.010 1.000 1 2019 2019
dbSNP: rs1346044
rs1346044
WRN
23 0.708 0.440 8 31167138 missense variant T/C snv 0.24 0.23 0.010 1.000 1 2000 2000
dbSNP: rs16147
rs16147
18 0.695 0.400 7 24283791 upstream gene variant T/C snv 0.48 0.010 1.000 1 2012 2012
dbSNP: rs16881446
rs16881446
2 0.925 0.040 4 11406961 intron variant T/C snv 0.27 0.700 1.000 1 2004 2004
dbSNP: rs17228212
rs17228212
8 0.807 0.160 15 67166301 intron variant T/C snv 0.21 0.010 < 0.001 1 2013 2013
dbSNP: rs1800896
rs1800896
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.010 1.000 1 2010 2010