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: rs104894649
rs104894649
2 0.925 0.040 17 16940352 missense variant C/T snv 8.0E-04 7.5E-04 0.010 1.000 1 2005 2005
dbSNP: rs121908379
rs121908379
2 0.925 0.040 17 16940375 stop gained GG/CC;TT mnv 0.010 1.000 1 2005 2005
dbSNP: rs34557412
rs34557412
15 0.763 0.240 17 16948873 missense variant A/G snv 3.5E-03 3.9E-03 0.010 1.000 1 2005 2005
dbSNP: rs939358667
rs939358667
1 1.000 0.040 17 7560733 missense variant A/G snv 7.0E-06 0.010 1.000 1 2005 2005