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: rs368488511
rs368488511
1 15 45099748 missense variant C/G;T snv 1.9E-04 0.020 1.000 2 2008 2017
dbSNP: rs180671269
rs180671269
2 1.000 0.120 15 45107450 stop gained T/A;C snv 6.8E-04; 4.0E-06 0.010 1.000 1 2017 2017