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: rs534215890
rs534215890
1 1.000 0.040 14 53950453 missense variant C/T snv 3.0E-04 9.1E-05 0.010 1.000 1 2016 2016
dbSNP: rs777406477
rs777406477
1 1.000 0.040 14 53950783 missense variant C/T snv 4.8E-05 7.0E-06 0.010 1.000 1 2016 2016