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: rs80338831
rs80338831
4 0.882 0.320 22 36292060 missense variant C/A;G;T snv 0.720 1.000 2 2002 2003
dbSNP: rs80338827
rs80338827
4 0.882 0.320 22 36305984 missense variant C/T snv 7.0E-06 0.710 1.000 2 2002 2019
dbSNP: rs121913657
rs121913657
4 0.882 0.160 22 36348950 missense variant G/A snv 0.710 1.000 1 2002 2002
dbSNP: rs80338826
rs80338826
6 0.827 0.320 22 36305985 missense variant G/A snv 0.710 1.000 1 2011 2011
dbSNP: rs80338829
rs80338829
5 0.851 0.200 22 36295069 missense variant G/A snv 0.710 1.000 1 2007 2007
dbSNP: rs80338834
rs80338834
3 0.925 0.160 22 36284474 missense variant C/T snv 0.710 1.000 1 2002 2002
dbSNP: rs80338835
rs80338835
3 0.925 0.200 22 36282754 stop gained G/A snv 4.0E-06 7.0E-06 0.710 1.000 1 2014 2014
dbSNP: rs867593888
rs867593888
11 0.882 0.200 22 36292059 missense variant T/C snv 0.700 1.000 1 2019 2019
dbSNP: rs121913655
rs121913655
2 1.000 0.160 22 36348958 missense variant G/A;C snv 2.4E-05 0.700 0
dbSNP: rs797044804
rs797044804
2 1.000 0.160 22 36291990 missense variant T/A snv 0.700 0
dbSNP: rs727503284
rs727503284
1 1.000 0.160 22 36289096 missense variant C/A snv 0.010 1.000 1 2006 2006
dbSNP: rs80338828
rs80338828
6 0.851 0.200 22 36305975 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs80338830
rs80338830
3 0.925 0.160 22 36295068 missense variant C/A snv 0.010 1.000 1 2002 2002