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: rs1062044
rs1062044
1 1.000 0.080 1 183143277 3 prime UTR variant A/G snv 0.53 0.010 1.000 1 2017 2017
dbSNP: rs2147578
rs2147578
4 0.851 0.120 1 183138564 non coding transcript exon variant G/A;C snv 0.010 1.000 1 2016 2016
dbSNP: rs6695837
rs6695837
2 0.925 0.080 1 183022327 upstream gene variant T/C snv 0.49 0.010 1.000 1 2017 2017