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: rs7105934
rs7105934
5 0.827 0.120 11 69424973 upstream gene variant G/A;C snv 0.830 1.000 7 2011 2019
dbSNP: rs718314
rs718314
6 0.882 0.120 12 26300350 intron variant A/G snv 0.27 0.840 0.833 6 2012 2019
dbSNP: rs7579899
rs7579899
2 0.925 0.120 2 46310465 intron variant A/G snv 0.52 0.830 1.000 5 2011 2019
dbSNP: rs1049380
rs1049380
5 0.827 0.120 12 26336611 3 prime UTR variant G/T snv 0.69 0.820 1.000 4 2012 2019
dbSNP: rs11894252
rs11894252
3 0.925 0.120 2 46306237 intron variant T/A;C;G snv 0.810 1.000 4 2011 2019
dbSNP: rs4765623
rs4765623
2 0.925 0.120 12 124836304 intron variant C/T snv 0.38 0.810 1.000 3 2011 2017
dbSNP: rs11762213
rs11762213
MET
2 0.925 0.120 7 116699228 synonymous variant G/A snv 3.3E-02 3.3E-02 0.020 1.000 2 2013 2014
dbSNP: rs12105918
rs12105918
1 1.000 0.120 2 144450626 intron variant T/C snv 6.1E-02 0.800 1.000 2 2013 2017
dbSNP: rs2121266
rs2121266
1 1.000 0.120 2 46308785 intron variant C/A snv 0.61 0.800 1.000 2 2011 2019
dbSNP: rs4903064
rs4903064
2 0.925 0.120 14 72812712 intron variant T/C snv 0.23 0.710 1.000 2 2017 2019
dbSNP: rs72858496
rs72858496
1 1.000 0.120 2 144452349 intron variant C/T snv 5.9E-02 0.800 1.000 2 2013 2015
dbSNP: rs10054504
rs10054504
1 1.000 0.120 5 32000377 intron variant T/A;C snv 0.800 1.000 1 2013 2013
dbSNP: rs1010980331
rs1010980331
2 0.925 0.120 17 17215072 missense variant T/C snv 0.010 1.000 1 2019 2019
dbSNP: rs10211665
rs10211665
1 1.000 0.120 2 46298957 intron variant T/C snv 0.58 0.700 1.000 1 2011 2011
dbSNP: rs10484683
rs10484683
1 1.000 0.120 6 147830941 intron variant A/G snv 0.18 0.700 1.000 1 2019 2019
dbSNP: rs1057519913
rs1057519913
3 0.925 0.120 1 11157172 missense variant G/C snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519949
rs1057519949
6 0.851 0.120 7 151490964 missense variant A/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519973
rs1057519973
1 1.000 0.120 8 73946733 missense variant T/A;G snv 0.700 1.000 1 2016 2016
dbSNP: rs1057519974
rs1057519974
1 1.000 0.120 8 73946734 missense variant A/T snv 0.700 1.000 1 2016 2016
dbSNP: rs1060502375
rs1060502375
3 0.882 0.120 17 17228023 missense variant G/T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs10771279
rs10771279
2 0.925 0.120 12 26377610 intron variant T/A;C snv 0.40 0.010 < 0.001 1 2014 2014
dbSNP: rs11125068
rs11125068
1 1.000 0.120 2 46300677 intron variant A/G snv 0.62 0.700 1.000 1 2011 2011
dbSNP: rs11263654
rs11263654
1 1.000 0.120 11 69423355 upstream gene variant C/T snv 0.11 0.700 1.000 1 2015 2015
dbSNP: rs1131690838
rs1131690838
3 0.925 0.120 17 17228135 frameshift variant C/- del 0.010 1.000 1 2019 2019
dbSNP: rs1154454
rs1154454
2 0.925 0.120 4 99417185 intron variant A/G snv 0.22 0.010 < 0.001 1 2018 2018