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: rs6313
rs6313
82 0.562 0.640 13 46895805 synonymous variant G/A snv 0.41 0.40 0.080 1.000 8 2000 2013
dbSNP: rs594242
rs594242
3 1.000 0.040 13 46883917 intron variant C/A;G snv 0.010 1.000 1 2006 2006
dbSNP: rs6311
rs6311
41 0.645 0.640 13 46897343 upstream gene variant C/T snv 0.40 0.010 1.000 1 2006 2006