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: rs879253748
rs879253748
5 0.882 0.040 5 161897251 frameshift variant C/- del 0.700 0
dbSNP: rs587777308
rs587777308
14 0.763 0.040 5 161873196 missense variant G/A snv 0.020 1.000 2 2016 2019
dbSNP: rs1060499553
rs1060499553
6 0.827 0.040 5 161890983 missense variant G/A snv 0.010 1.000 1 2016 2016
dbSNP: rs727503940
rs727503940
1 1.000 0.040 5 161882638 missense variant C/A;T snv 0.010 1.000 1 2019 2019
dbSNP: rs747138999
rs747138999
2 1.000 0.040 5 161895753 missense variant G/T snv 0.010 1.000 1 2019 2019
dbSNP: rs796052491
rs796052491
4 0.851 0.040 5 161890982 missense variant T/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs796052493
rs796052493
4 0.851 0.040 5 161895668 missense variant G/A;T snv 0.010 1.000 1 2016 2016