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: rs727502811
rs727502811
6 0.882 0.080 9 129814108 missense variant C/T snv 9.1E-05 6.3E-05 0.810 1.000 2 2008 2011
dbSNP: rs267607134
rs267607134
4 0.882 0.080 9 129818752 missense variant A/T snv 4.8E-05 1.4E-04 0.700 1.000 12 1997 2016
dbSNP: rs80358233
rs80358233
2 1.000 0.080 9 129814062 inframe deletion CTC/- delins 4.9E-05 0.700 1.000 6 1997 2014
dbSNP: rs760768475
rs760768475
1 1.000 0.080 9 129814109 stop gained G/A snv 2.8E-05 1.4E-05 0.700 0