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: rs2799182
rs2799182
1 1 3779436 3 prime UTR variant T/C snv 0.57 0.700 1.000 1 2012 2012
dbSNP: rs6667255
rs6667255
1 1 3795125 intron variant T/C snv 0.20 0.700 1.000 1 2012 2012
dbSNP: rs7513053
rs7513053
1 1 3792923 intron variant A/G snv 0.21 0.700 1.000 1 2012 2012
dbSNP: rs8379
rs8379
1 1 3780326 3 prime UTR variant A/C snv 0.56 0.700 1.000 1 2012 2012