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 0.050 1.000 5 2014 2020
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