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: rs1229984
rs1229984
83 0.570 0.560 4 99318162 missense variant T/C;G snv 0.90 0.700 1.000 1 2016 2016
dbSNP: rs17358800
rs17358800
5 0.827 0.160 1 110235437 3 prime UTR variant A/G snv 0.21 0.700 1.000 1 2016 2016
dbSNP: rs1961637
rs1961637
5 0.827 0.160 2 223040390 regulatory region variant G/T snv 0.59 0.700 1.000 1 2016 2016
dbSNP: rs3828805
rs3828805
12 0.752 0.160 6 32668343 5 prime UTR variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs6847067
rs6847067
5 0.827 0.160 4 84811016 intron variant C/A snv 0.39 0.700 1.000 1 2016 2016