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: rs129128
rs129128
7 6 26125114 intron variant C/T snv 0.91 0.700 1.000 1 2012 2012
dbSNP: rs2856646
rs2856646
4 6 26135270 intron variant A/G snv 0.73 0.700 1.000 1 2012 2012
dbSNP: rs67250268
rs67250268
4 6 26135269 intron variant A/-;AA delins 0.700 1.000 1 2012 2012