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: rs3769821
rs3769821
4 0.851 0.200 2 201258707 intron variant C/T snv 0.57 0.710 0.500 2 2017 2019
dbSNP: rs1045485
rs1045485
34 0.637 0.480 2 201284866 missense variant G/A;C;T snv 4.0E-06; 9.0E-02 0.100 0.882 17 2004 2019
dbSNP: rs3834129
rs3834129
38 0.627 0.560 2 201232809 upstream gene variant AGTAAG/- del 0.48 0.050 1.000 5 2008 2019
dbSNP: rs10931936
rs10931936
6 0.827 0.120 2 201279205 intron variant T/C snv 0.72 0.020 0.500 2 2012 2019
dbSNP: rs1044484322
rs1044484322
2 0.925 0.080 2 201271565 missense variant T/A;G snv 4.0E-06 0.010 1.000 1 2007 2007
dbSNP: rs1045494
rs1045494
3 0.882 0.120 2 201287058 3 prime UTR variant T/C snv 0.10 0.010 1.000 1 2014 2014
dbSNP: rs1221800282
rs1221800282
2 0.925 0.080 2 201276921 missense variant C/T snv 4.0E-06 0.010 1.000 1 2006 2006
dbSNP: rs34210251
rs34210251
2 0.925 0.080 2 201258305 missense variant C/A;G;T snv 2.3E-04; 2.4E-05 0.010 1.000 1 2006 2006
dbSNP: rs3817578
rs3817578
2 0.925 0.080 2 201271872 intron variant C/T snv 9.8E-02 0.010 1.000 1 2012 2012
dbSNP: rs6723097
rs6723097
2 0.925 0.080 2 201263895 intron variant A/C;T snv 0.010 1.000 1 2012 2012