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: rs3020314
rs3020314
7 0.790 0.280 6 151949537 intron variant C/G;T snv 0.010 1.000 1 2014 2014
dbSNP: rs2059614
rs2059614
1 1.000 11 125389528 intron variant A/G snv 5.3E-02 0.010 1.000 1 2015 2015
dbSNP: rs10822013
rs10822013
4 0.851 0.080 10 62492218 intron variant C/T snv 0.42 0.010 1.000 1 2016 2016
dbSNP: rs12998806
rs12998806
2 0.925 2 217029040 intergenic variant G/A snv 0.18 0.010 1.000 1 2016 2016
dbSNP: rs13074711
rs13074711
1 1.000 3 172550013 regulatory region variant T/C snv 0.17 0.010 1.000 1 2016 2016
dbSNP: rs1432679
rs1432679
4 0.851 0.080 5 158817075 intron variant C/T snv 0.44 0.010 1.000 1 2016 2016
dbSNP: rs4973768
rs4973768
7 0.807 0.120 3 27374522 3 prime UTR variant C/T snv 0.44 0.010 1.000 1 2016 2016
dbSNP: rs704010
rs704010
4 0.851 0.080 10 79081391 intron variant T/C snv 0.71 0.010 1.000 1 2016 2016
dbSNP: rs981782
rs981782
4 0.851 0.080 5 45285616 intron variant A/C snv 0.34 0.010 1.000 1 2016 2016
dbSNP: rs121434592
rs121434592
54 0.595 0.640 14 104780214 missense variant C/T snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs13267382
rs13267382
3 0.882 0.080 8 116197325 intron variant A/G snv 0.45 0.010 1.000 1 2017 2017
dbSNP: rs190843378
rs190843378
2 0.925 2 218841159 upstream gene variant C/T snv 1.3E-02 0.010 1.000 1 2017 2017
dbSNP: rs4245739
rs4245739
21 0.708 0.360 1 204549714 3 prime UTR variant C/A;G snv 0.77; 6.2E-06 0.010 1.000 1 2017 2017
dbSNP: rs6796502
rs6796502
3 0.882 0.080 3 46825376 downstream gene variant G/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs6596100
rs6596100
2 0.925 0.080 5 133071366 intron variant C/T snv 0.24 0.010 1.000 1 2019 2019