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: rs121913446
rs121913446
2 0.925 0.120 7 55174735 missense variant C/T snv 0.700 1.000 1 2014 2014
dbSNP: rs751295137
rs751295137
6 0.851 0.160 7 55152582 missense variant G/A snv 8.0E-06 7.0E-06 0.020 1.000 2 2007 2010
dbSNP: rs760101437
rs760101437
6 0.851 0.160 7 55154018 missense variant G/A snv 3.2E-05 1.4E-05 0.020 1.000 2 2007 2010
dbSNP: rs121913444
rs121913444
18 0.724 0.160 7 55191831 missense variant T/A;C;G snv 0.010 1.000 1 2013 2013
dbSNP: rs2072454
rs2072454
9 0.763 0.160 7 55146655 synonymous variant C/T snv 0.51 0.51 0.010 1.000 1 2019 2019
dbSNP: rs2227983
rs2227983
31 0.658 0.520 7 55161562 missense variant G/A;C;T snv 0.29 0.010 1.000 1 2014 2014