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: rs11465384
rs11465384
1 1.000 0.080 19 7745120 intron variant G/A snv 6.5E-02 6.3E-02 0.010 1.000 1 2012 2012
dbSNP: rs16949649
rs16949649
12 0.776 0.200 17 51152947 upstream gene variant T/C snv 0.39 0.010 1.000 1 2020 2020
dbSNP: rs1840680
rs1840680
6 0.807 0.200 3 157438240 intron variant A/G snv 0.59 0.010 1.000 1 2018 2018
dbSNP: rs2234649
rs2234649
3 0.925 0.120 12 6342197 upstream gene variant T/G snv 4.8E-02 0.010 1.000 1 2010 2010
dbSNP: rs2302254
rs2302254
15 0.752 0.240 17 51153539 5 prime UTR variant C/T snv 0.22 0.010 1.000 1 2020 2020
dbSNP: rs3901533
rs3901533
6 0.827 0.280 12 10124484 intron variant A/C snv 0.66 0.010 1.000 1 2012 2012
dbSNP: rs4149570
rs4149570
11 0.752 0.360 12 6342424 upstream gene variant A/C;G;T snv 0.010 1.000 1 2010 2010
dbSNP: rs4804800
rs4804800
1 1.000 0.080 19 7740242 3 prime UTR variant G/A snv 0.81 0.010 1.000 1 2012 2012
dbSNP: rs7309123
rs7309123
8 0.807 0.280 12 10119994 intron variant G/C snv 0.42 0.010 1.000 1 2012 2012
dbSNP: rs767455
rs767455
13 0.742 0.400 12 6341779 synonymous variant T/C snv 0.37 0.40 0.010 1.000 1 2010 2010