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: rs12934922
rs12934922
4 0.851 0.120 16 81268089 missense variant A/G;T snv 0.36 0.010 < 0.001 1 2018 2018
dbSNP: rs7501331
rs7501331
3 0.882 0.080 16 81280891 missense variant C/T snv 0.21 0.18 0.010 < 0.001 1 2018 2018