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: rs1260326
rs1260326
81 0.645 0.600 2 27508073 missense variant T/C;G snv 0.63; 4.0E-06 0.68 0.800 1.000 23 2008 2019
dbSNP: rs780094
rs780094
62 0.658 0.400 2 27518370 intron variant T/C snv 0.67 0.800 1.000 10 2007 2019
dbSNP: rs780093
rs780093
30 0.763 0.240 2 27519736 intron variant T/C snv 0.68 0.800 1.000 6 2011 2019
dbSNP: rs780092
rs780092
10 0.827 0.160 2 27520287 intron variant A/G snv 0.18 0.800 1.000 5 2011 2019
dbSNP: rs814295
rs814295
6 0.925 0.120 2 27520348 intron variant A/G snv 0.18 0.800 1.000 2 2012 2017
dbSNP: rs3817588
rs3817588
7 0.882 0.160 2 27508345 intron variant T/C snv 0.14 0.700 1.000 2 2018 2019
dbSNP: rs11681351
rs11681351
3 0.925 0.120 2 27520556 intron variant G/A snv 0.36 0.700 1.000 1 2012 2012
dbSNP: rs2293572
rs2293572
3 0.925 0.120 2 27505910 intron variant C/G snv 0.39 0.700 1.000 1 2012 2012
dbSNP: rs57634090
rs57634090
1 2 27508873 intron variant T/-;TT;TTT;TTTT;TTTTTT delins 0.700 1.000 1 2019 2019
dbSNP: rs704790
rs704790
1 2 27523543 3 prime UTR variant G/A snv 4.0E-02 0.700 1.000 1 2012 2012
dbSNP: rs780090
rs780090
4 0.925 0.120 2 27495607 upstream gene variant T/C;G snv 0.700 1.000 1 2012 2012
dbSNP: rs813592
rs813592
3 0.925 0.120 2 27499104 intron variant T/C snv 0.42 0.47 0.700 1.000 1 2012 2012