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: rs17235409
rs17235409
31 0.653 0.600 2 218395009 missense variant G/A;C snv 4.9E-02; 4.1E-06 0.030 0.667 3 2000 2018
dbSNP: rs3731865
rs3731865
5 0.882 0.160 2 218385280 non coding transcript exon variant G/A;C;T snv 0.23; 1.4E-04 0.020 1.000 2 2009 2015
dbSNP: rs17221959
rs17221959
3 0.882 0.160 2 218387907 synonymous variant C/T snv 7.0E-02 0.12 0.010 1.000 1 2019 2019
dbSNP: rs17235416
rs17235416
6 0.807 0.200 2 218395091 3 prime UTR variant TGTG/- del 8.4E-02 0.010 1.000 1 2009 2009
dbSNP: rs34448891
rs34448891
2 0.925 0.160 2 218381927 upstream gene variant TGTGTGTG/-;TG;TGTG;TGTGTG;TGTGTGTGTG;TGTGTGTGTGTG;TGTGTGTGTGTGTG;TGTGTGTGTGTGTGTG delins 0.010 1.000 1 2009 2009
dbSNP: rs7573065
rs7573065
3 1.000 0.120 2 218381984 upstream gene variant C/A;T snv 0.010 1.000 1 2015 2015