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 0.800 1.000 13 2010 2017
dbSNP: rs3750846
rs3750846
4 0.851 0.040 10 122456049 intron variant T/C snv 0.24 0.700 1.000 1 2016 2016
dbSNP: rs2736911
rs2736911
3 0.882 0.120 10 122454839 stop gained C/A;T snv 4.0E-06; 0.13 0.010 1.000 1 2012 2012
dbSNP: rs3750847
rs3750847
4 0.882 0.040 10 122455905 intron variant C/T snv 0.23 0.010 1.000 1 2015 2015