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: rs2014355
rs2014355
4 0.925 0.120 12 120737721 non coding transcript exon variant T/C snv 0.22 0.700 1.000 2 2010 2013
dbSNP: rs3916
rs3916
1 12 120739469 3 prime UTR variant G/C;T snv 0.27; 8.7E-06 0.700 1.000 1 2013 2013
dbSNP: rs3999408
rs3999408
1 12 120729584 intron variant C/T snv 0.25 0.700 1.000 1 2013 2013