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: rs727503513
rs727503513
2 0.925 0.080 1 201365292 missense variant G/A snv 0.700 1.000 1 1999 1999
dbSNP: rs141754300
rs141754300
2 0.925 0.040 1 201364349 missense variant C/A snv 8.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs200754249
rs200754249
4 0.851 0.080 1 201368212 missense variant G/A;T snv 4.5E-04; 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs970498944
rs970498944
2 0.925 0.040 1 201373235 missense variant A/G snv 7.0E-06 0.010 1.000 1 2016 2016