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: rs1485579458
rs1485579458
4 0.851 0.080 17 39723921 missense variant A/G snv 4.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs527779103
rs527779103
2 0.925 0.080 17 39708528 missense variant C/T snv 5.4E-04 1.4E-04 0.010 1.000 1 2018 2018
dbSNP: rs564064363
rs564064363
4 0.851 0.080 17 39706998 missense variant G/A;C snv 1.3E-05 0.010 1.000 1 2017 2017