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 0.020 1.000 2 2014 2019
dbSNP: rs2276631
rs2276631
3 0.882 0.120 2 218384290 missense variant C/T snv 0.23 0.23 0.010 1.000 1 2015 2015
dbSNP: rs2279015
rs2279015
3 0.882 0.080 2 218394547 non coding transcript exon variant G/A snv 0.51 0.020 1.000 2 2015 2019
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 2019 2019