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: rs368234815
rs368234815
15 0.742 0.280 19 39248514 frameshift variant TT/G;T delins 0.100 1.000 18 2014 2019
dbSNP: rs35761398
rs35761398
19 0.701 0.520 1 23875429 missense variant TT/CC mnv 0.010 1.000 1 2014 2014
dbSNP: rs8099917
rs8099917
60 0.581 0.600 19 39252525 upstream gene variant T/G snv 0.16 0.100 0.965 113 2010 2019
dbSNP: rs1800872
rs1800872
119 0.495 0.840 1 206773062 5 prime UTR variant T/G snv 0.69 0.030 1.000 3 2013 2018
dbSNP: rs1012068
rs1012068
5 0.827 0.160 22 31869917 intron variant T/G snv 0.37 0.020 1.000 2 2014 2016
dbSNP: rs1946518
rs1946518
46 0.602 0.760 11 112164735 intron variant T/G snv 0.60 0.020 1.000 2 2009 2019
dbSNP: rs2149356
rs2149356
14 0.742 0.360 9 117711921 intron variant T/G snv 0.54 0.020 1.000 2 2015 2019
dbSNP: rs3212227
rs3212227
65 0.566 0.840 5 159315942 3 prime UTR variant T/G snv 0.26 0.020 1.000 2 2013 2017
dbSNP: rs7574865
rs7574865
59 0.574 0.720 2 191099907 intron variant T/G snv 0.79 0.020 1.000 2 2013 2013
dbSNP: rs13401937
rs13401937
1 1.000 0.080 2 55025078 splice region variant T/G snv 0.11 0.14 0.700 1.000 1 2019 2019
dbSNP: rs20576
rs20576
34 0.637 0.400 8 23200707 missense variant T/G snv 0.15 0.14 0.010 1.000 1 2012 2012
dbSNP: rs2282679
rs2282679
GC
38 0.645 0.480 4 71742666 intron variant T/G snv 0.21 0.010 1.000 1 2013 2013
dbSNP: rs2241766
rs2241766
48 0.608 0.720 3 186853103 synonymous variant T/C;G snv 8.0E-06; 0.13 0.010 1.000 1 2014 2014
dbSNP: rs2278034
rs2278034
1 1.000 0.080 3 195870036 3 prime UTR variant T/C;G snv 0.44; 2.7E-05 0.010 1.000 1 2011 2011
dbSNP: rs2978048
rs2978048
2 1.000 0.080 8 133603893 intergenic variant T/C;G snv 5.2E-02 0.700 1.000 1 2014 2014
dbSNP: rs8103142
rs8103142
4 0.882 0.120 19 39244466 missense variant T/C snv 0.29 0.40 0.050 1.000 5 2011 2015
dbSNP: rs1800896
rs1800896
113 0.507 0.800 1 206773552 intron variant T/C snv 0.41 0.040 1.000 4 2013 2018
dbSNP: rs153109
rs153109
37 0.623 0.600 16 28507775 intron variant T/C snv 0.43 0.030 1.000 3 2014 2019
dbSNP: rs4898
rs4898
25 0.672 0.520 X 47585586 synonymous variant T/C snv 0.46 0.46 0.020 1.000 2 2013 2019
dbSNP: rs10945859
rs10945859
3 0.882 0.120 6 162721570 intron variant T/C snv 0.17 0.010 1.000 1 2017 2017
dbSNP: rs1126579
rs1126579
8 0.776 0.200 2 218136011 3 prime UTR variant T/C snv 0.62 0.010 1.000 1 2018 2018
dbSNP: rs11820062
rs11820062
3 0.925 0.120 11 65662465 5 prime UTR variant T/C snv 0.52 0.010 1.000 1 2018 2018
dbSNP: rs13170556
rs13170556
2 0.925 0.120 5 157095577 intron variant T/C snv 0.13 0.010 1.000 1 2016 2016
dbSNP: rs1439490
rs1439490
3 0.882 0.120 22 21351147 upstream gene variant T/C snv 0.010 1.000 1 2018 2018
dbSNP: rs1474358
rs1474358
2 0.925 0.120 2 190145376 intron variant T/C snv 5.3E-03 0.010 1.000 1 2017 2017