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 2009 2009
dbSNP: rs198823
rs198823
2 6 26122705 intron variant G/C;T snv 0.700 1.000 1 2009 2009
dbSNP: rs2307823
rs2307823
2 6 26118310 intron variant AGATCAGTTTGGTCAA/- delins 0.700 1.000 1 2016 2016