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: rs3812863
rs3812863
1 1.000 0.080 13 27971131 upstream gene variant G/A snv 0.48 0.010 1.000 1 2014 2014
dbSNP: rs4769585
rs4769585
1 1.000 0.080 13 27976441 downstream gene variant C/T snv 0.39 0.010 1.000 1 2014 2014
dbSNP: rs4880
rs4880
131 0.500 0.840 6 159692840 missense variant A/G snv 0.48 0.47 0.010 1.000 1 2010 2010
dbSNP: rs536289169
rs536289169
13 0.752 0.360 1 109688180 missense variant C/T snv 4.8E-04 0.010 1.000 1 2010 2010
dbSNP: rs6214
rs6214
26 0.672 0.400 12 102399791 3 prime UTR variant C/T snv 0.45 0.010 1.000 1 2010 2010
dbSNP: rs717746
rs717746
1 1.000 0.080 5 150176995 intron variant T/A;C;G snv 0.010 1.000 1 2014 2014
dbSNP: rs759412116
rs759412116
55 0.581 0.640 19 45352210 missense variant C/G;T snv 4.0E-06; 6.0E-05 0.010 1.000 1 2005 2005
dbSNP: rs764643047
rs764643047
5 0.851 0.120 3 9750336 missense variant C/T snv 4.0E-06 0.010 1.000 1 2010 2010
dbSNP: rs917997
rs917997
20 0.701 0.480 2 102454108 downstream gene variant T/A;C snv 0.010 1.000 1 2012 2012
dbSNP: rs9823696
rs9823696
2 0.925 0.080 3 184065565 downstream gene variant A/G;T snv 0.010 1.000 1 2016 2016