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: rs141555015
rs141555015
1 1.000 0.080 6 32839023 upstream gene variant GCTTTGTAATTGGAGAAT/- delins 1.4E-05 0.010 1.000 1 2016 2016
dbSNP: rs241447
rs241447
11 0.827 0.280 6 32828974 missense variant T/C snv 0.31 0.26 0.010 1.000 1 2016 2016