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: rs10490924
rs10490924
16 0.716 0.240 10 122454932 missense variant G/T snv 0.26 0.23 0.900 0.979 97 2006 2019
dbSNP: rs3750848
rs3750848
1 1.000 0.040 10 122455799 intron variant T/G snv 0.23 0.810 1.000 3 2010 2013
dbSNP: rs3750847
rs3750847
4 0.882 0.040 10 122455905 intron variant C/T snv 0.23 0.720 1.000 3 2011 2018
dbSNP: rs3750846
rs3750846
4 0.851 0.040 10 122456049 intron variant T/C snv 0.24 0.710 1.000 2 2016 2018
dbSNP: rs2736911
rs2736911
3 0.882 0.120 10 122454839 stop gained C/A;T snv 4.0E-06; 0.13 0.060 0.833 6 2012 2016
dbSNP: rs10490923
rs10490923
2 0.925 0.160 10 122454735 missense variant G/A snv 0.11 9.2E-02 0.020 0.500 2 2012 2014
dbSNP: rs36212732
rs36212732
1 1.000 0.040 10 122455682 intron variant A/G snv 0.23 0.010 1.000 1 2017 2017
dbSNP: rs36212733
rs36212733
1 1.000 0.040 10 122455695 intron variant T/C snv 0.23 0.010 1.000 1 2017 2017