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: rs397517132
rs397517132
48 0.623 0.280 7 55191846 missense variant A/T snv 0.010 1.000 1 2015 2015
dbSNP: rs11506105
rs11506105
4 0.851 0.160 7 55152484 intron variant A/G snv 0.59 0.010 1.000 1 2017 2017
dbSNP: rs11979158
rs11979158
5 0.882 0.040 7 55091656 intron variant A/G;T snv 0.20 0.850 1.000 6 2011 2018
dbSNP: rs17172432
rs17172432
3 0.882 0.080 7 55073624 intron variant T/C snv 0.31 0.010 < 0.001 1 2017 2017
dbSNP: rs59060240
rs59060240
4 0.882 0.040 7 55080369 intron variant AA/-;A;AAA;AAAA;AAAAAAAAAAA delins 0.700 1.000 1 2015 2015
dbSNP: rs723527
rs723527
4 0.882 0.040 7 55067179 intron variant A/G snv 0.53 0.700 1.000 1 2017 2017
dbSNP: rs730437
rs730437
2 0.925 0.120 7 55147325 intron variant A/C snv 0.51 0.040 0.750 4 2012 2017
dbSNP: rs1468727
rs1468727
2 0.925 0.120 7 55162412 intron variant C/T snv 0.21 0.030 1.000 3 2012 2015
dbSNP: rs4947492
rs4947492
2 0.925 0.040 7 55120299 intron variant G/A snv 0.50 0.010 < 0.001 1 2017 2017
dbSNP: rs12718945
rs12718945
1 1.000 0.040 7 55125270 intron variant T/G snv 0.51 0.010 < 0.001 1 2017 2017
dbSNP: rs3752651
rs3752651
1 1.000 0.040 7 55161850 intron variant T/C snv 0.15 0.010 < 0.001 1 2017 2017
dbSNP: rs845552
rs845552
1 1.000 0.040 7 55177814 intron variant A/G snv 0.43 0.010 < 0.001 1 2017 2017