Source: ALL
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: rs1465957886
rs1465957886
SI
2 1.000 0.120 3 165046930 missense variant G/A snv 4.0E-06 0.010 1.000 1 2014 2014
dbSNP: rs28940868
rs28940868
GAA
4 0.851 0.120 17 80112922 missense variant C/A;T snv 1.2E-04; 8.2E-06 0.010 1.000 1 2010 2010
dbSNP: rs764670084
rs764670084
GAA
3 0.925 0.120 17 80112621 missense variant C/T snv 4.0E-06 2.1E-05 0.010 1.000 1 2014 2014
dbSNP: rs782738646
rs782738646
MGAM
3 0.882 0.120 7 142034817 missense variant G/T snv 1.2E-05 0.010 1.000 1 2010 2010
dbSNP: rs796051877
rs796051877
GAA
11 0.807 0.320 17 80110055 splice region variant G/A snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs886042961
rs886042961
GAA
2 1.000 0.120 17 80108713 missense variant A/G;T snv 0.010 1.000 1 2014 2014