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: rs11674595
rs11674595
13 0.763 0.200 2 101994530 intron variant T/C snv 0.22 0.010 1.000 1 2019 2019
dbSNP: rs2072472
rs2072472
13 0.732 0.200 2 102026557 intron variant A/G snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs3917225
rs3917225
6 0.807 0.160 2 102152842 intron variant A/G snv 0.36 0.010 1.000 1 2019 2019
dbSNP: rs2227869
rs2227869
9 0.790 0.240 13 102862735 missense variant G/A;C snv 4.3E-02 0.010 1.000 1 2013 2013
dbSNP: rs861539
rs861539
104 0.519 0.680 14 103699416 missense variant G/A snv 0.29 0.30 0.020 0.500 2 2009 2015
dbSNP: rs768891111
rs768891111
4 0.851 0.080 14 103699474 stop gained C/A;G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs709399
rs709399
3 0.882 0.080 14 103701208 3 prime UTR variant G/A snv 0.59 0.61 0.010 1.000 1 2017 2017
dbSNP: rs1297812518
rs1297812518
9 0.763 0.160 14 103707168 missense variant G/A snv 1.3E-05 1.4E-05 0.010 < 0.001 1 2014 2014
dbSNP: rs861530
rs861530
13 0.732 0.320 14 103707786 3 prime UTR variant T/C snv 0.65 0.010 1.000 1 2017 2017
dbSNP: rs34677591
rs34677591
12 0.742 0.120 11 112086941 missense variant G/A snv 7.5E-03 7.0E-03 0.010 1.000 1 2017 2017
dbSNP: rs11214077
rs11214077
12 0.752 0.120 11 112087953 missense variant A/G snv 6.6E-03 6.7E-03 0.010 1.000 1 2017 2017
dbSNP: rs360717
rs360717
4 0.851 0.080 11 112164002 5 prime UTR variant G/A snv 0.25 0.010 1.000 1 2015 2015
dbSNP: rs360718
rs360718
5 0.827 0.120 11 112164016 5 prime UTR variant A/C snv 0.26 0.010 1.000 1 2015 2015
dbSNP: rs187238
rs187238
48 0.602 0.680 11 112164265 intron variant C/A;G snv 0.010 1.000 1 2015 2015
dbSNP: rs1946518
rs1946518
46 0.602 0.760 11 112164735 intron variant T/G snv 0.60 0.010 1.000 1 2015 2015
dbSNP: rs1946519
rs1946519
4 0.851 0.120 11 112164784 intron variant A/C snv 0.60 0.010 1.000 1 2015 2015
dbSNP: rs3783521
rs3783521
8 0.807 0.200 2 112786000 upstream gene variant G/A snv 0.26 0.010 1.000 1 2019 2019
dbSNP: rs1143623
rs1143623
29 0.677 0.440 2 112838252 upstream gene variant C/G snv 0.24 0.010 1.000 1 2019 2019
dbSNP: rs78201625
rs78201625
4 0.851 0.080 10 113577182 missense variant C/T snv 2.4E-03 1.8E-03 0.010 1.000 1 2018 2018
dbSNP: rs7080536
rs7080536
27 0.683 0.360 10 113588287 missense variant G/A snv 2.2E-02 2.4E-02 0.040 1.000 4 2016 2017
dbSNP: rs1057519695
rs1057519695
35 0.641 0.520 1 114713907 missense variant TT/CA;CC mnv 0.010 1.000 1 2016 2016
dbSNP: rs1057519834
rs1057519834
31 0.658 0.480 1 114713908 missense variant TG/CT mnv 0.010 1.000 1 2016 2016
dbSNP: rs11554290
rs11554290
59 0.583 0.600 1 114713908 missense variant T/A;C;G snv 0.010 1.000 1 2016 2016
dbSNP: rs33917957
rs33917957
MET
10 0.790 0.120 7 116700208 missense variant A/G snv 2.7E-02 1.8E-02 0.010 1.000 1 2018 2018
dbSNP: rs4658973
rs4658973
3 0.882 0.080 1 117956431 intron variant T/G snv 0.34 0.010 1.000 1 2008 2008