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: rs689466
rs689466
33 0.637 0.640 1 186681619 upstream gene variant T/C snv 0.17 0.020 1.000 2 2011 2016
dbSNP: rs20417
rs20417
57 0.576 0.600 1 186681189 non coding transcript exon variant C/G;T snv 0.010 1.000 1 2019 2019
dbSNP: rs5273
rs5273
6 0.827 0.080 1 186674636 missense variant A/C;G snv 4.0E-06; 7.6E-03 1.4E-02 0.010 1.000 1 2010 2010
dbSNP: rs5275
rs5275
55 0.583 0.560 1 186673926 3 prime UTR variant A/G;T snv 0.010 1.000 1 2012 2012
dbSNP: rs5277
rs5277
9 0.790 0.160 1 186679065 synonymous variant C/G;T snv 0.12; 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs5278
rs5278
2 0.925 0.080 1 186676537 synonymous variant A/G snv 4.8E-03 1.8E-02 0.010 1.000 1 2009 2009
dbSNP: rs5279
rs5279
2 0.925 0.080 1 186675946 missense variant A/C;G;T snv 4.0E-06; 4.5E-03; 8.0E-06 0.010 1.000 1 2009 2009
dbSNP: rs689470
rs689470
9 0.776 0.240 1 186671926 3 prime UTR variant G/A;C;T snv 0.010 1.000 1 2009 2009