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: rs3747333
rs3747333
3 0.925 0.040 X 5893491 missense variant G/A;C;T snv 7.6E-03 0.010 1.000 1 2019 2019
dbSNP: rs3747334
rs3747334
3 0.925 0.040 X 5893489 synonymous variant G/A;C;T snv 1.2E-05; 6.7E-03 0.010 1.000 1 2019 2019
dbSNP: rs751945904
rs751945904
2 0.925 0.040 X 5893158 missense variant G/A snv 1.1E-05 0.010 1.000 1 2015 2015