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: rs79184941
rs79184941
41 0.617 0.600 10 121520163 missense variant G/A;C snv 5.6E-05; 4.0E-06 0.710 1.000 1 2011 2011
dbSNP: rs121913478
rs121913478
17 0.708 0.640 10 121515280 missense variant T/C snv 0.700 0
dbSNP: rs1057519854
rs1057519854
7 0.882 0.080 10 121488063 missense variant A/T snv 0.020 1.000 2 2011 2013
dbSNP: rs121913476
rs121913476
7 0.851 0.080 10 121498520 missense variant A/C;T snv 0.020 1.000 2 2011 2013
dbSNP: rs121918497
rs121918497
8 0.776 0.160 10 121520052 missense variant T/G snv 0.010 1.000 1 2015 2015
dbSNP: rs1219648
rs1219648
17 0.716 0.320 10 121586676 intron variant A/G;T snv 0.010 1.000 1 2008 2008
dbSNP: rs1438956733
rs1438956733
2 0.925 0.080 10 121515180 synonymous variant G/A snv 7.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs55745510
rs55745510
2 0.925 0.080 10 121520039 synonymous variant G/A snv 7.6E-05 2.1E-05 0.010 1.000 1 2015 2015