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: rs137852920
rs137852920
2 1.000 0.080 1 5904716 stop gained G/A;T snv 8.0E-06; 4.0E-06 0.700 0
dbSNP: rs774488954
rs774488954
4 0.882 0.040 X 19008001 frameshift variant A/-;AA delins 0.700 1.000 1 2016 2016
dbSNP: rs779007169
rs779007169
2 1.000 0.080 16 1520177 missense variant C/G;T snv 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs879255538
rs879255538
4 0.882 0.040 X 18994920 frameshift variant A/- delins 0.700 1.000 1 2016 2016
dbSNP: rs879255539
rs879255539
4 0.882 0.040 X 19003070 frameshift variant CACAG/TCT delins 0.700 1.000 1 2016 2016