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: rs121909231
rs121909231
32 0.667 0.600 10 87961095 stop gained C/A;T snv 0.700 0
dbSNP: rs1029342144
rs1029342144
6 0.882 0.120 10 87864162 5 prime UTR variant C/G;T snv 0.010 1.000 1 2011 2011
dbSNP: rs1114167628
rs1114167628
5 0.925 0.080 10 87961033 stop gained -/ATATCTAG delins 0.010 1.000 1 2013 2013
dbSNP: rs121913294
rs121913294
14 0.776 0.280 10 87952143 missense variant G/A;C;T snv 8.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs2299941
rs2299941
3 0.882 0.080 10 87944962 intron variant A/G snv 9.7E-02 0.010 1.000 1 2018 2018
dbSNP: rs2735343
rs2735343
11 0.790 0.240 10 87945672 non coding transcript exon variant G/C snv 0.39 0.010 1.000 1 2018 2018
dbSNP: rs786204929
rs786204929
12 0.752 0.200 10 87933144 stop gained G/A;T snv 0.010 1.000 1 2007 2007
dbSNP: rs868257011
rs868257011
4 0.925 0.080 10 87961042 frameshift variant TACTT/- del 0.010 1.000 1 2013 2013