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: rs4081134
rs4081134
7 0.790 0.160 14 100855451 non coding transcript exon variant G/A snv 0.29 0.010 1.000 1 2018 2018
dbSNP: rs745805222
rs745805222
7 0.790 0.120 12 102475722 synonymous variant C/T snv 1.2E-05 4.9E-05 0.010 1.000 1 2012 2012
dbSNP: rs10895322
rs10895322
4 0.851 0.120 11 102599525 intron variant A/G snv 9.4E-02 0.010 1.000 1 2017 2017
dbSNP: rs2094258
rs2094258
20 0.701 0.280 13 102844409 intron variant C/T snv 0.18 0.010 1.000 1 2016 2016
dbSNP: rs1047768
rs1047768
20 0.695 0.320 13 102852167 synonymous variant T/C snv 0.52 0.59 0.010 1.000 1 2016 2016
dbSNP: rs873601
rs873601
25 0.677 0.360 13 102875987 3 prime UTR variant G/A snv 0.59 0.010 1.000 1 2016 2016
dbSNP: rs41274458
rs41274458
4 0.851 0.080 1 10303606 missense variant G/T snv 1.8E-02 1.9E-02 0.010 1.000 1 2003 2003
dbSNP: rs758576072
rs758576072
4 0.851 0.160 8 104244917 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs2302616
rs2302616
3 0.882 0.080 2 10448065 intron variant C/A snv 0.26 0.010 1.000 1 2015 2015
dbSNP: rs143864187
rs143864187
3 0.882 0.080 11 104949666 missense variant C/A snv 0.010 1.000 1 2010 2010
dbSNP: rs17065417
rs17065417
3 0.882 0.080 6 104958399 intron variant A/C snv 0.10 0.010 1.000 1 2012 2012
dbSNP: rs221634
rs221634
4 0.851 0.080 6 105080213 3 prime UTR variant T/A snv 0.52 0.020 1.000 2 2016 2017
dbSNP: rs4884357
rs4884357
6 0.807 0.120 1 11022301 missense variant G/A;T snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs367543041
rs367543041
15 0.742 0.200 1 11022553 missense variant G/A;C snv 3.0E-05 0.010 1.000 1 2014 2014
dbSNP: rs4938723
rs4938723
60 0.574 0.680 11 111511840 intron variant T/C snv 0.32 0.020 1.000 2 2019 2019
dbSNP: rs148634289
rs148634289
6 0.827 0.200 11 112088925 synonymous variant C/T snv 1.6E-05 2.1E-05 0.010 1.000 1 2014 2014
dbSNP: rs397507509
rs397507509
9 0.807 0.240 12 112450359 missense variant G/C;T snv 0.010 1.000 1 2008 2008
dbSNP: rs2153977
rs2153977
6 0.807 0.240 1 113537449 intron variant C/T snv 0.28 0.010 1.000 1 2019 2019
dbSNP: rs2273267
rs2273267
4 0.882 0.080 1 114716848 upstream gene variant A/C;T snv 0.010 1.000 1 2020 2020
dbSNP: rs765771575
rs765771575
MET
3 0.882 0.080 7 116782017 missense variant T/C;G snv 4.0E-06; 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.010 1.000 1 2014 2014
dbSNP: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.020 1.000 2 2014 2015
dbSNP: rs1801133
rs1801133
174 0.472 0.880 1 11796321 missense variant G/A snv 0.31 0.27 0.010 1.000 1 2015 2015
dbSNP: rs201668878
rs201668878
4 0.882 0.080 11 118373576 missense variant T/C snv 1.7E-04 1.0E-04 0.010 1.000 1 2006 2006
dbSNP: rs7652589
rs7652589
13 0.732 0.400 3 122170241 downstream gene variant A/G snv 0.60 0.010 1.000 1 2017 2017