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: rs568970047
rs568970047
1 1.000 0.040 11 67456365 missense variant G/A;T snv 7.2E-05; 5.6E-05 0.010 1.000 1 2017 2017
dbSNP: rs104894063
rs104894063
3 0.882 0.120 8 27463607 missense variant A/T snv 0.700 0
dbSNP: rs28931591
rs28931591
4 0.882 0.160 20 63350560 missense variant G/A snv 0.720 1.000 6 1999 2012
dbSNP: rs121909580
rs121909580
3 0.882 0.080 20 63350572 missense variant G/A;C snv 0.030 1.000 3 1999 2006
dbSNP: rs772253190
rs772253190
1 1.000 0.040 20 63350552 missense variant C/T snv 8.0E-06 7.0E-06 0.010 1.000 1 2008 2008
dbSNP: rs928557634
rs928557634
1 1.000 0.040 20 63350381 missense variant C/A snv 0.010 1.000 1 2002 2002
dbSNP: rs74315291
rs74315291
3 0.882 0.080 1 154571682 missense variant G/A;C;T snv 0.730 1.000 3 2002 2013
dbSNP: rs281865071
rs281865071
5 0.882 0.080 1 154571759 missense variant C/G;T snv 0.010 1.000 1 2008 2008