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: rs4948487
rs4948487
1 1.000 0.040 10 61910106 intron variant C/A;G snv 0.010 1.000 1 2014 2014
dbSNP: rs4948496
rs4948496
2 0.925 0.120 10 62045858 intron variant T/C snv 0.55 0.010 1.000 1 2014 2014
dbSNP: rs4948502
rs4948502
2 1.000 0.040 10 62079658 intron variant T/C snv 0.33 0.010 1.000 1 2014 2014
dbSNP: rs80356682
rs80356682
7 0.790 0.120 1 209625721 stop gained G/A snv 5.1E-04 4.8E-04 0.010 1.000 1 2002 2002