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: rs28364997
rs28364997
9 0.807 0.120 5 1403013 missense variant G/A snv 5.3E-04 5.8E-04 0.050 1.000 5 2005 2018
dbSNP: rs463379
rs463379
3 0.882 0.080 5 1431049 intron variant G/C snv 0.31 0.030 1.000 3 2007 2014
dbSNP: rs2652511
rs2652511
2 0.925 0.040 5 1446274 upstream gene variant A/G snv 0.51 0.020 1.000 2 2009 2014
dbSNP: rs27048
rs27048
2 1.000 0.040 5 1412530 intron variant C/A;G;T snv 0.020 1.000 2 2011 2018
dbSNP: rs429699
rs429699
3 0.925 0.080 5 1409012 intron variant T/C snv 0.96 0.98 0.020 1.000 2 2011 2018
dbSNP: rs763131939
rs763131939
1 1.000 0.040 5 1394755 missense variant G/A snv 8.0E-06 2.8E-05 0.020 1.000 2 2012 2015
dbSNP: rs27072
rs27072
11 0.807 0.120 5 1394407 3 prime UTR variant C/A;T snv 0.010 1.000 1 2014 2014
dbSNP: rs2975226
rs2975226
2 0.925 0.040 5 1445501 upstream gene variant A/T snv 0.50 0.010 1.000 1 2009 2009
dbSNP: rs37020
rs37020
1 1.000 0.040 5 1418259 intron variant A/C snv 0.53 0.010 1.000 1 2014 2014
dbSNP: rs3836790
rs3836790
5 0.882 0.080 5 1411740 intron variant -/ACATACACACTCAGACACACATACCATGCA ins 0.010 1.000 1 2014 2014
dbSNP: rs3863145
rs3863145
2 0.925 0.120 5 1392596 downstream gene variant G/A snv 0.21 0.010 1.000 1 2017 2017
dbSNP: rs393795
rs393795
4 0.851 0.160 5 1428399 intron variant G/T snv 0.28 0.010 1.000 1 2014 2014
dbSNP: rs403636
rs403636
1 1.000 0.040 5 1438239 intron variant A/C snv 0.81 0.010 1.000 1 2014 2014
dbSNP: rs460000
rs460000
1 1.000 0.040 5 1432710 intron variant G/A;C;T snv 1.6E-05; 0.31 0.010 1.000 1 2010 2010