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: rs138008832
rs138008832
8 1.000 5 150123142 missense variant G/A;T snv 1.1E-04; 1.6E-05 0.700 0
dbSNP: rs1923884
rs1923884
2 1.000 0.120 13 46847701 intron variant C/T snv 0.12 0.010 1.000 1 2016 2016
dbSNP: rs2070040
rs2070040
1 13 46893491 intron variant G/A snv 0.37 0.010 1.000 1 2016 2016
dbSNP: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.010 1.000 1 2016 2016