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: rs13420827
rs13420827
4 0.882 0.160 2 25231099 3 prime UTR variant C/G;T snv 0.030 1.000 3 2012 2018
dbSNP: rs13428812
rs13428812
9 0.827 0.120 2 25269598 intron variant A/G snv 0.31 0.020 1.000 2 2012 2019
dbSNP: rs1550117
rs1550117
11 0.790 0.320 2 25343038 upstream gene variant A/G;T snv 0.020 1.000 2 2015 2016
dbSNP: rs11695471
rs11695471
2 0.925 0.080 2 25234839 intron variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs6733868
rs6733868
6 0.851 0.120 2 25276998 intron variant C/G snv 0.50 0.010 1.000 1 2019 2019
dbSNP: rs779315943
rs779315943
5 0.882 0.160 2 25247708 frameshift variant TTTCC/- del 0.010 1.000 1 2010 2010