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: rs121909665
rs121909665
2 0.925 0.160 2 48990629 missense variant G/T snv 0.810 1.000 8 2003 2018
dbSNP: rs28928870
rs28928870
1 1.000 0.080 2 48963475 missense variant G/A;T snv 4.0E-06 0.810 1.000 8 2003 2015
dbSNP: rs28928871
rs28928871
1 1.000 0.080 2 48963122 missense variant C/T snv 0.810 1.000 8 2003 2015
dbSNP: rs121909663
rs121909663
1 1.000 0.080 2 48963476 missense variant T/C snv 0.700 0
dbSNP: rs121909664
rs121909664
1 1.000 0.080 2 48963187 missense variant A/G;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs6166
rs6166
17 0.708 0.240 2 48962782 missense variant C/T snv 0.57 0.57 0.030 0.667 3 2004 2009
dbSNP: rs6165
rs6165
14 0.724 0.160 2 48963902 missense variant C/G;T snv 4.0E-06; 0.55 0.020 0.500 2 2004 2009
dbSNP: rs121909658
rs121909658
8 0.776 0.200 2 48983125 missense variant G/A snv 6.9E-04 5.8E-04 0.010 1.000 1 2008 2008
dbSNP: rs121909659
rs121909659
2 0.925 0.160 2 48989022 missense variant A/G;T snv 4.0E-05; 4.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs386833511
rs386833511
3 0.882 0.200 2 48963097 missense variant G/A snv 0.010 1.000 1 2015 2015