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: rs121913530
rs121913530
63 0.583 0.640 12 25245351 missense variant C/A;G;T snv 0.800 1.000 19 2002 2019
dbSNP: rs121913529
rs121913529
144 0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06 0.790 1.000 26 2002 2019
dbSNP: rs17851045
rs17851045
27 0.672 0.400 12 25227341 missense variant T/A;G snv 4.0E-06 0.720 1.000 5 2002 2018
dbSNP: rs121913535
rs121913535
14 0.742 0.320 12 25245348 missense variant C/A;G;T snv 0.710 1.000 4 2002 2013
dbSNP: rs121913240
rs121913240
24 0.672 0.440 12 25227342 missense variant T/A;C;G snv 0.700 1.000 4 2002 2008
dbSNP: rs727503108
rs727503108
3 0.882 0.280 12 25227345 missense variant C/A snv 4.0E-06 0.700 1.000 4 2006 2013
dbSNP: rs112445441
rs112445441
32 0.658 0.400 12 25245347 missense variant C/A;G;T snv 0.700 1.000 3 2002 2008
dbSNP: rs121913238
rs121913238
17 0.732 0.240 12 25227343 missense variant G/C;T snv 0.700 1.000 3 2002 2009
dbSNP: rs397517040
rs397517040
2 0.925 0.120 12 25245346 synonymous variant G/A;T snv 4.0E-06 0.700 0
dbSNP: rs727503106
rs727503106
1 1.000 0.080 12 25227234 missense variant C/T snv 0.700 0
dbSNP: rs61764370
rs61764370
29 0.662 0.320 12 25207290 3 prime UTR variant A/C snv 6.2E-02 0.020 1.000 2 2011 2015
dbSNP: rs61761074
rs61761074
1 1.000 0.080 12 25244659 intron variant A/C snv 2.7E-02 0.010 1.000 1 2015 2015