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: rs794726837
rs794726837
1 1.000 0.040 2 166051705 intron variant A/C snv 0.700 1.000 1 2015 2015
dbSNP: rs121917908
rs121917908
1 1.000 0.040 2 165999764 stop gained C/A;G;T snv 0.700 1.000 21 2003 2017
dbSNP: rs121917941
rs121917941
1 1.000 0.040 2 166039577 stop gained G/C snv 0.700 1.000 21 2003 2017
dbSNP: rs121917942
rs121917942
1 1.000 0.040 2 166039476 stop gained C/A;T snv 0.700 1.000 21 2003 2017
dbSNP: rs121918786
rs121918786
1 1.000 0.040 2 166037862 stop gained C/A;T snv 0.700 1.000 21 2003 2017
dbSNP: rs121918764
rs121918764
2 0.925 0.040 2 165996053 stop gained A/C;G snv 0.700 1.000 20 2003 2017
dbSNP: rs121918624
rs121918624
5 0.827 0.080 2 166052882 stop gained G/A snv 0.700 1.000 9 2001 2015
dbSNP: rs794726730
rs794726730
3 0.882 0.080 2 166042334 stop gained G/A snv 0.700 1.000 6 2006 2015
dbSNP: rs121918754
rs121918754
1 1.000 0.040 2 166037787 stop gained C/A;T snv 0.700 1.000 5 2003 2013
dbSNP: rs398123585
rs398123585
4 0.851 0.080 2 166043875 stop gained G/A;T snv 4.0E-06 0.700 1.000 5 2006 2015
dbSNP: rs779614747
rs779614747
1 1.000 0.040 2 165991619 stop gained G/A;T snv 8.0E-06 0.700 1.000 4 2006 2015
dbSNP: rs727504136
rs727504136
3 0.882 0.040 2 166012255 stop gained G/A snv 0.700 1.000 3 2003 2015
dbSNP: rs794726710
rs794726710
4 0.882 0.160 2 166013812 stop gained G/A snv 0.700 1.000 3 2003 2015
dbSNP: rs139300715
rs139300715
3 0.882 0.080 2 165996047 stop gained G/A;C;T snv 2.0E-05 0.700 1.000 2 2002 2015
dbSNP: rs199727342
rs199727342
1 1.000 0.040 2 165992369 stop gained G/A;T snv 1.6E-05 0.700 1.000 2 2011 2015
dbSNP: rs794726789
rs794726789
1 1.000 0.040 2 166002740 stop gained G/A;T snv 0.800 1.000 2 2010 2015
dbSNP: rs796053004
rs796053004
1 1.000 0.040 2 166009736 stop gained G/A snv 0.700 1.000 2 2009 2009
dbSNP: rs863225037
rs863225037
1 1.000 0.040 2 165991839 stop gained C/G;T snv 0.700 1.000 2 2007 2012
dbSNP: rs138877187
rs138877187
3 0.882 0.080 2 166045081 stop gained G/A;C;T snv 7.6E-05 0.700 1.000 1 2015 2015
dbSNP: rs372098964
rs372098964
1 1.000 0.040 2 165991739 stop gained T/A;C snv 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs397514459
rs397514459
1 1.000 0.040 2 166039428 stop gained G/A;C;T snv 0.700 1.000 1 2015 2015
dbSNP: rs542420576
rs542420576
2 0.925 0.040 2 166036371 stop gained G/A;T snv 4.1E-06 0.700 1.000 1 2015 2015
dbSNP: rs764444350
rs764444350
1 1.000 0.040 2 166073501 stop gained T/A;C snv 4.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs794726697
rs794726697
2 0.925 0.040 2 166038129 stop gained G/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs794726699
rs794726699
1 1.000 0.040 2 165999759 stop gained C/T snv 0.700 1.000 1 2015 2015