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: rs113488022
rs113488022
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2015 2015
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2015 2015
dbSNP: rs3775292
rs3775292
5 0.851 0.080 4 186081871 non coding transcript exon variant C/G snv 0.82 0.010 1.000 1 2013 2013
dbSNP: rs723526
rs723526
2 1.000 7 55067126 intron variant A/G snv 0.86 0.010 1.000 1 2013 2013
dbSNP: rs7668666
rs7668666
4 1.000 4 186080138 intron variant C/A;T snv 0.010 1.000 1 2013 2013