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: rs755235380
rs755235380
3 1.000 0.080 1 161314406 start lost A/G snv 4.0E-06 1.4E-05 0.700 1.000 7 2000 2013
dbSNP: rs764575966
rs764575966
8 0.882 0.080 1 161356832 stop gained C/T snv 3.6E-05 7.0E-06 0.700 1.000 7 2007 2016
dbSNP: rs587776653
rs587776653
7 0.827 0.160 1 161356841 splice donor variant G/A;C;T snv 8.0E-06 0.700 1.000 6 2003 2014
dbSNP: rs201286421
rs201286421
5 0.882 0.080 1 161323636 stop gained C/T snv 8.0E-06 2.1E-05 0.700 1.000 5 2008 2014
dbSNP: rs587778661
rs587778661
4 0.925 0.080 1 161328466 missense variant C/T snv 7.0E-06 0.700 1.000 4 2009 2016
dbSNP: rs587776652
rs587776652
4 0.882 0.200 1 161314408 start lost G/A snv 0.700 1.000 2 2000 2012
dbSNP: rs786202200
rs786202200
3 1.000 0.080 1 161328395 splice acceptor variant G/A;T snv 7.0E-06 0.700 1.000 2 2009 2014
dbSNP: rs1553264218
rs1553264218
2 1.000 0.080 1 161340629 frameshift variant G/- del 0.700 0
dbSNP: rs1558182956
rs1558182956
2 1.000 0.080 1 161356840 splice donor variant G/- delins 0.700 0