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: rs1713418
rs1713418
1 1.000 14 20366650 3 prime UTR variant A/G snv 0.52 0.010 1.000 1 2015 2015
dbSNP: rs1760904
rs1760904
1 1.000 14 20383870 missense variant A/C;G snv 8.5E-06; 4.2E-06; 0.56 0.62 0.010 1.000 1 2015 2015
dbSNP: rs2011077
rs2011077
8 0.807 0.080 5 177094455 intron variant C/T snv 0.19 0.010 1.000 1 2008 2008
dbSNP: rs351855
rs351855
58 0.597 0.560 5 177093242 missense variant G/A snv 0.33 0.26 0.010 1.000 1 2008 2008
dbSNP: rs758272654
rs758272654
50 0.611 0.680 20 58909201 synonymous variant T/C snv 4.0E-06 7.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs776973438
rs776973438
1 1.000 19 50860060 missense variant C/T snv 4.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs9904341
rs9904341
20 0.695 0.280 17 78214286 5 prime UTR variant G/A;C;T snv 0.38; 4.8E-06 0.010 1.000 1 2013 2013