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: rs796065343
rs796065343
12 0.776 0.080 1 36467833 missense variant G/A snv 0.070 1.000 7 2013 2020
dbSNP: rs77375493
rs77375493
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.040 1.000 4 2005 2013
dbSNP: rs121918426
rs121918426
3 0.882 0.080 1 36467597 missense variant G/A;T snv 4.1E-04 0.010 1.000 1 2016 2016
dbSNP: rs754944509
rs754944509
4 0.851 0.080 17 42690793 missense variant C/T snv 4.4E-05 0.010 1.000 1 2018 2018