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: rs3731249
rs3731249
23 0.683 0.320 9 21970917 missense variant C/A;G;T snv 2.1E-02 0.030 0.667 3 2005 2007
dbSNP: rs11515
rs11515
6 0.882 0.040 9 21968200 3 prime UTR variant C/A;G snv 4.0E-06; 0.88 0.010 1.000 1 2017 2017
dbSNP: rs1444669684
rs1444669684
36 0.658 0.480 9 21994285 missense variant C/A;T snv 0.010 1.000 1 2016 2016
dbSNP: rs200863613
rs200863613
6 0.925 0.080 9 21971061 missense variant C/A;T snv 8.5E-05 3.7E-04 0.010 1.000 1 2017 2017
dbSNP: rs3088440
rs3088440
12 0.776 0.240 9 21968160 3 prime UTR variant G/A snv 0.13 0.010 < 0.001 1 2017 2017
dbSNP: rs771138120
rs771138120
13 0.827 0.120 9 21971191 missense variant G/A;C;T snv 9.1E-06; 4.5E-06 0.010 1.000 1 2002 2002