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: rs2228145
rs2228145
57 0.602 0.720 1 154454494 missense variant A/C;T snv 0.38; 1.2E-05 0.850 0.889 9 2010 2019
dbSNP: rs8192284
rs8192284
19 0.724 0.720 1 154454494 missense variant A/C;T snv 0.730 1.000 4 2010 2012
dbSNP: rs4329505
rs4329505
3 0.925 0.120 1 154459944 intron variant T/C snv 0.22 0.010 1.000 1 2014 2014
dbSNP: rs4453032
rs4453032
1 1.000 0.120 1 154441610 intron variant A/G snv 0.32 0.010 1.000 1 2015 2015
dbSNP: rs4845618
rs4845618
5 0.851 0.160 1 154427539 intron variant G/T snv 0.53 0.010 1.000 1 2015 2015