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: rs139787163
rs139787163
2 0.925 0.120 1 16125271 missense variant C/T snv 4.8E-04 3.6E-04 0.010 1.000 1 2013 2013
dbSNP: rs3754334
rs3754334
2 0.925 0.040 1 16125272 synonymous variant G/A snv 0.28 0.24 0.010 < 0.001 1 2012 2012