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: rs12579720
rs12579720
2 12 20020830 intron variant C/A;G;T snv 0.700 1.000 4 2015 2018
dbSNP: rs3752728
rs3752728
2 12 20040038 intron variant G/A snv 0.61 0.700 1.000 2 2016 2018
dbSNP: rs10743353
rs10743353
2 12 20047028 intron variant C/T snv 0.60 0.700 1.000 1 2018 2018
dbSNP: rs11044990
rs11044990
1 12 20019998 intron variant A/G snv 0.12 0.700 1.000 1 2018 2018
dbSNP: rs12829468
rs12829468
2 12 20043911 intron variant A/C snv 0.61 0.700 1.000 1 2018 2018
dbSNP: rs4306343
rs4306343
2 12 20037696 intron variant A/T snv 0.61 0.700 1.000 1 2018 2018