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: rs267607468
rs267607468
3 0.882 0.160 12 52488371 missense variant C/G;T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs267607473
rs267607473
3 0.882 0.160 12 52447821 missense variant C/T snv 0.010 1.000 1 2019 2019
dbSNP: rs28928898
rs28928898
3 0.882 0.080 17 41624247 missense variant A/G;T snv 0.010 1.000 1 2006 2006