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: rs387906351
rs387906351
2 0.923 0.143 1 85270827 frameshift variant A/AT in-del 0.700 1 1999 1999
dbSNP: rs398122513
rs398122513
BAX
1 1.000 0.107 19 48955799 missense variant G/A snp 0.700 1 1998 1998
dbSNP: rs398122842
rs398122842
BAX
1 1.000 0.107 19 48955715 splice donor variant GGGGGGGG/G in-del 0.700 1 1998 1998
dbSNP: rs113488022
rs113488022
267 0.407 0.786 7 140753336 missense variant snp 4.0E-06 0.010 1.000 1 2016 2016
dbSNP: rs121913237
rs121913237
37 0.626 0.429 1 114716126 missense variant C/A,G,T snp 8.0E-06 0.010 1.000 1 2011 2011
dbSNP: rs2239633
rs2239633
12 0.756 0.143 14 23119848 regulatory region variant G/A snp 0.39 0.010 < 0.001 1 2016 2016
dbSNP: rs765576835
rs765576835
3 0.878 0.179 3 10036306 missense variant T/C snp 4.0E-06 0.010 1.000 1 2007 2007