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: rs886039506
rs886039506
3 0.882 0.160 9 127829770 stop gained G/A snv 0.700 1.000 9 2000 2014
dbSNP: rs1554810378
rs1554810378
2 0.925 0.120 9 127825722 missense variant A/G snv 0.700 1.000 8 1999 2012
dbSNP: rs878853657
rs878853657
2 0.925 0.120 9 127826586 missense variant C/G snv 0.700 1.000 8 1998 2014
dbSNP: rs1060501410
rs1060501410
2 0.925 0.120 9 127824800 missense variant C/T snv 0.700 1.000 6 2005 2016
dbSNP: rs1060501414
rs1060501414
1 1.000 0.120 9 127825862 splice acceptor variant T/C snv 7.0E-06 0.700 1.000 6 1994 2012
dbSNP: rs1252348200
rs1252348200
ENG
1 1.000 0.120 9 127843168 missense variant C/A;T snv 4.0E-06 0.700 1.000 5 2004 2012
dbSNP: rs1554809516
rs1554809516
1 1.000 0.120 9 127819952 missense variant C/T snv 0.700 1.000 5 2001 2012
dbSNP: rs1554810490
rs1554810490
1 1.000 0.120 9 127826522 stop gained G/A snv 0.700 1.000 5 1997 2005
dbSNP: rs1564455715
rs1564455715
1 1.000 0.120 9 127824975 splice acceptor variant C/G snv 0.700 1.000 5 2006 2014
dbSNP: rs1329127701
rs1329127701
2 0.925 0.120 9 127824304 splice region variant C/T snv 0.700 1.000 4 2005 2014
dbSNP: rs1564453019
rs1564453019
1 1.000 0.120 9 127818797 frameshift variant AG/- delins 0.700 1.000 4 2003 2012
dbSNP: rs1554809331
rs1554809331
1 1.000 0.120 9 127818727 frameshift variant TCT/AC delins 0.700 1.000 3 2000 2007
dbSNP: rs1554809448
rs1554809448
1 1.000 0.120 9 127819622 splice region variant C/A;G snv 0.700 1.000 3 1998 2011
dbSNP: rs1554812253
rs1554812253
ENG
1 1.000 0.120 9 127843093 splice donor variant C/T snv 0.700 1.000 3 2006 2012
dbSNP: rs1564452759
rs1564452759
1 1.000 0.120 9 127818379 splice acceptor variant T/C snv 0.700 1.000 3 2006 2012
dbSNP: rs1564453538
rs1564453538
1 1.000 0.120 9 127819904 frameshift variant T/- delins 0.700 1.000 3 1998 2007
dbSNP: rs1564455554
rs1564455554
1 1.000 0.120 9 127824798 splice donor variant A/G snv 0.700 1.000 3 2006 2012
dbSNP: rs373842615
rs373842615
2 0.925 0.120 9 127819662 splice acceptor variant T/C snv 4.2E-06 0.700 1.000 3 2006 2012
dbSNP: rs886039505
rs886039505
2 0.925 0.120 9 127829686 splice donor variant C/T snv 0.700 1.000 3 1997 2009
dbSNP: rs1060501408
rs1060501408
ENG
1 1.000 0.120 9 127854482 5 prime UTR variant G/A snv 0.700 1.000 2 2011 2011
dbSNP: rs1064793734
rs1064793734
1 1.000 0.120 9 127824314 frameshift variant CTTT/- delins 0.700 1.000 2 2002 2010
dbSNP: rs1064794219
rs1064794219
1 1.000 0.120 9 127825322 frameshift variant CTCAG/- delins 0.700 1.000 2 2010 2011
dbSNP: rs1085307433
rs1085307433
2 0.925 0.160 9 127818734 frameshift variant C/- delins 0.700 1.000 2 2004 2004
dbSNP: rs1564452075
rs1564452075
1 1.000 0.120 9 127817203 splice acceptor variant C/- delins 0.700 1.000 2 2010 2013
dbSNP: rs1564452747
rs1564452747
1 1.000 0.120 9 127818371 frameshift variant CT/- delins 0.700 1.000 2 1998 2005