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: rs3775291
rs3775291
51 0.602 0.640 4 186082920 missense variant C/G;T snv 1.2E-04; 0.28 0.010 1.000 1 2012 2012
dbSNP: rs4129009
rs4129009
6 0.882 0.120 4 38773268 missense variant T/A;C;G snv 0.17 0.13 0.010 < 0.001 1 2016 2016
dbSNP: rs5743618
rs5743618
25 0.677 0.360 4 38797027 missense variant C/A snv 0.53 0.51 0.010 1.000 1 2014 2014
dbSNP: rs601338
rs601338
19 0.742 0.280 19 48703417 stop gained G/A snv 0.38 0.45 0.010 1.000 1 2019 2019
dbSNP: rs7041
rs7041
GC
64 0.576 0.800 4 71752617 missense variant A/C;T snv 0.52; 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs7216389
rs7216389
14 0.732 0.440 17 39913696 intron variant C/T snv 0.60 0.010 1.000 1 2015 2015
dbSNP: rs909253
rs909253
34 0.641 0.600 6 31572536 intron variant A/G;T snv 0.010 1.000 1 2009 2009