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: rs387907063
rs387907063
2 0.925 0.160 16 88431728 stop gained G/A;T snv 2.0E-05 0.710 1.000 1 2015 2015
dbSNP: rs387907062
rs387907062
1 1.000 0.160 16 88437570 missense variant G/A snv 0.700 0
dbSNP: rs9938149
rs9938149
4 0.925 0.160 16 88298034 intron variant C/A snv 0.66 0.020 1.000 2 2011 2017
dbSNP: rs12447690
rs12447690
3 1.000 0.160 16 88264518 intron variant C/T snv 0.53 0.010 1.000 1 2011 2011