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: rs201065145
rs201065145
1 1.000 0.080 8 144505096 missense variant G/A snv 1.4E-04 3.5E-05 0.010 1.000 1 2016 2016
dbSNP: rs747620337
rs747620337
1 1.000 0.080 8 144504414 missense variant T/C snv 4.0E-06 2.8E-05 0.010 1.000 1 2017 2017