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: rs2242670
rs2242670
1 1.000 0.080 19 50909059 5 prime UTR variant A/G snv 0.51 0.010 1.000 1 2017 2017
dbSNP: rs2978642
rs2978642
1 1.000 0.080 19 50910650 intron variant A/G;T snv 0.27 0.33 0.010 1.000 1 2017 2017
dbSNP: rs6441989
rs6441989
3 0.882 0.120 3 46433408 downstream gene variant A/G snv 0.53 0.010 1.000 1 2015 2015