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: rs6280
rs6280
57 0.602 0.520 3 114171968 missense variant C/T snv 0.63 0.54 0.010 1.000 1 2018 2018
dbSNP: rs27072
rs27072
11 0.807 0.120 5 1394407 3 prime UTR variant C/A;T snv 0.010 1.000 1 2015 2015