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: rs17886163
rs17886163
2 0.925 0.080 22 28695159 missense variant A/C snv 1.4E-03 5.4E-03 0.010 1.000 1 2016 2016
dbSNP: rs200050883
rs200050883
4 0.851 0.120 22 28695190 missense variant C/A;G;T snv 3.9E-04 3.4E-04 0.010 1.000 1 2016 2016
dbSNP: rs587780170
rs587780170
5 0.851 0.120 22 28695786 missense variant C/A;G;T snv 2.8E-05; 8.0E-06 0.010 1.000 1 2016 2016