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: rs267607042
rs267607042
5 0.851 0.320 18 44951942 missense variant G/A;C snv 0.700 1.000 4 2010 2017
dbSNP: rs1057519594
rs1057519594
1 1.000 18 44951356 frameshift variant -/T ins 0.700 1.000 1 2014 2014
dbSNP: rs606231269
rs606231269
1 1.000 18 44951803 frameshift variant A/- delins 0.700 0
dbSNP: rs606231270
rs606231270
1 1.000 18 44952372 stop gained C/G snv 0.700 0
dbSNP: rs606231271
rs606231271
1 1.000 18 44701771 frameshift variant C/- delins 0.700 0
dbSNP: rs606231272
rs606231272
2 0.925 0.240 18 44951213 stop gained C/T snv 0.700 0
dbSNP: rs606231273
rs606231273
2 0.925 0.240 18 44951216 stop gained C/T snv 0.700 0
dbSNP: rs672601342
rs672601342
1 1.000 18 44950936 stop gained G/A;T snv 0.700 0