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: rs121434528
rs121434528
2 0.925 0.120 10 88939543 missense variant G/A snv 7.0E-06 0.800 1.000 10 2007 2017
dbSNP: rs121434527
rs121434527
2 0.925 0.120 10 88939542 missense variant C/T snv 0.800 1.000 8 2007 2017
dbSNP: rs397516685
rs397516685
3 0.882 0.120 10 88939680 missense variant C/T snv 0.800 1.000 8 2007 2017
dbSNP: rs777832794
rs777832794
1 1.000 0.120 10 88938074 missense variant G/T snv 6.0E-05 2.8E-05 0.700 1.000 8 2007 2017
dbSNP: rs727502878
rs727502878
2 0.925 0.120 10 88939595 missense variant C/G snv 0.700 0