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: rs1051730
rs1051730
19 0.715 0.250 15 78601997 synonymous variant G/A snp 0.27 0.26 0.010 1.000 1 2015 2015
dbSNP: rs13280604
rs13280604
4 0.878 0.143 8 42704443 5 prime UTR variant G/A snp 0.63 0.010 1.000 1 2015 2015
dbSNP: rs1451240
rs1451240
3 0.923 0.071 8 42691568 intergenic variant A/G snp 0.65 0.010 1.000 1 2015 2015
dbSNP: rs4680
rs4680
155 0.484 0.821 22 19963748 missense variant G/A snp 0.46 0.45 0.010 1.000 1 2014 2014
dbSNP: rs806368
rs806368
8 0.784 0.143 6 88140381 3 prime UTR variant T/C snp 0.19 0.010 < 0.001 1 2016 2016