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: rs35754645
rs35754645
2 2 233755941 non coding transcript exon variant CTCT/-;CT delins 0.37 0.700 1.000 1 2019 2019
dbSNP: rs3755319
rs3755319
5 0.925 0.120 2 233758936 intron variant A/C;G;T snv 0.800 1.000 1 2009 2015
dbSNP: rs3771341
rs3771341
2 2 233764593 intron variant G/A;T snv 0.33 0.700 1.000 1 2015 2015
dbSNP: rs4148324
rs4148324
2 2 233764076 intron variant T/A;G snv 0.36 0.800 1.000 1 2012 2015
dbSNP: rs4477910
rs4477910
5 1.000 2 233735091 intron variant A/T snv 0.46 0.700 1.000 1 2015 2015
dbSNP: rs4663969
rs4663969
5 1.000 2 233746667 intron variant C/A;T snv 0.800 1.000 1 2009 2015
dbSNP: rs6431630
rs6431630
2 2 233768740 intron variant G/A snv 0.18 0.800 1.000 1 2009 2018
dbSNP: rs6714634
rs6714634
2 2 233756119 non coding transcript exon variant T/C snv 0.30 0.800 1.000 1 2012 2015
dbSNP: rs6747843
rs6747843
2 2 233755708 non coding transcript exon variant G/A snv 0.30 0.700 1.000 1 2015 2015
dbSNP: rs75520741
rs75520741
1 2 233732958 intron variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs7564935
rs7564935
1 2 233736540 intron variant G/T snv 0.37 0.800 1.000 1 2009 2019
dbSNP: rs7604115
rs7604115
2 2 233749470 intron variant C/T snv 0.37 0.800 1.000 1 2009 2015
dbSNP: rs8330
rs8330
1 1.000 0.040 2 233772999 3 prime UTR variant G/C snv 0.72 0.800 1.000 1 2009 2018