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: rs1057518843
rs1057518843
19 0.790 0.240 14 87988523 missense variant C/T snv 0.700 0
dbSNP: rs1085307993
rs1085307993
53 0.716 0.440 5 161331056 missense variant C/T snv 0.700 0
dbSNP: rs377274761
rs377274761
20 0.776 0.240 14 87968393 missense variant C/T snv 8.0E-06 2.8E-05 0.700 0
dbSNP: rs866294686
rs866294686
43 0.683 0.480 10 102657073 stop gained C/A;T snv 0.700 0
dbSNP: rs113994097
rs113994097
22 0.724 0.400 15 89323426 missense variant C/G snv 9.7E-04 7.9E-04 0.010 1.000 1 2008 2008
dbSNP: rs267606959
rs267606959
19 0.732 0.200 15 89318986 missense variant G/A snv 2.0E-05 0.700 1.000 2 2010 2011
dbSNP: rs550423482
rs550423482
6 0.882 0.160 17 47946670 missense variant G/A;T snv 4.0E-05 0.010 1.000 1 2014 2014
dbSNP: rs387907281
rs387907281
13 0.752 0.280 19 41970284 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs398122887
rs398122887
8 0.790 0.280 19 41967744 missense variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs80356537
rs80356537
17 0.752 0.320 19 41970405 missense variant C/A;G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs863223953
rs863223953
10 0.776 0.240 12 32731362 missense variant C/T snv 0.700 1.000 2 2016 2016
dbSNP: rs1800497
rs1800497
56 0.620 0.400 11 113400106 missense variant G/A snv 0.26 0.26 0.010 1.000 1 2018 2018