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: rs104894075
rs104894075
5 0.851 0.080 8 74362940 stop gained C/G snv 4.0E-06 2.1E-05 0.010 1.000 1 2010 2010
dbSNP: rs104894077
rs104894077
8 0.790 0.080 8 74361886 stop gained C/T snv 7.6E-05 1.5E-04 0.010 1.000 1 2010 2010
dbSNP: rs104894078
rs104894078
5 0.851 0.080 8 74360184 missense variant C/T snv 7.0E-06 0.010 1.000 1 2012 2012
dbSNP: rs397515442
rs397515442
4 0.882 0.080 8 74360194 missense variant A/G snv 0.010 1.000 1 2013 2013