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: rs1217691063
rs1217691063
614 0.330 0.920 1 11796309 missense variant A/G snv 4.0E-06 7.0E-06 0.030 1.000 3 2007 2014
dbSNP: rs397507444
rs397507444
306 0.405 0.880 1 11794407 missense variant T/G snv 0.020 1.000 2 2007 2009
dbSNP: rs486907
rs486907
32 0.667 0.360 1 182585422 missense variant C/T snv 0.31 0.28 0.010 1.000 1 2007 2007
dbSNP: rs267608078
rs267608078
5 0.882 0.160 2 47803501 frameshift variant C/-;CC;CCC delins 0.700 1.000 33 1997 2017
dbSNP: rs63749831
rs63749831
4 0.925 0.160 2 47475051 inframe deletion AAT/- del 4.0E-06 0.700 1.000 19 1996 2017
dbSNP: rs63749932
rs63749932
5 0.882 0.160 2 47476399 stop gained C/G;T snv 1.6E-05; 4.0E-06 0.700 1.000 17 1998 2016
dbSNP: rs587779075
rs587779075
5 0.882 0.200 2 47429830 stop gained C/T snv 0.700 1.000 15 1997 2013
dbSNP: rs63750138
rs63750138
6 0.851 0.160 2 47800297 missense variant C/A;G;T snv 2.0E-05; 8.0E-06 0.720 1.000 13 2001 2019
dbSNP: rs63750828
rs63750828
4 0.925 0.160 2 47416351 missense variant G/A snv 0.700 1.000 13 2003 2017
dbSNP: rs63749843
rs63749843
7 0.827 0.240 2 47803449 stop gained C/A;G;T snv 0.700 1.000 12 2002 2018
dbSNP: rs63750617
rs63750617
6 0.851 0.160 2 47803473 missense variant C/G;T snv 4.0E-06; 9.5E-05 0.700 1.000 12 2006 2017
dbSNP: rs63750875
rs63750875
15 0.742 0.280 2 47475171 missense variant G/A;C snv 1.6E-05 0.760 1.000 12 2004 2012
dbSNP: rs63751017
rs63751017
6 0.851 0.240 2 47800714 stop gained C/A;T snv 1.4E-05 0.700 1.000 12 2003 2017
dbSNP: rs267608094
rs267608094
4 0.925 0.160 2 47806641 stop gained C/A;T snv 4.1E-06; 4.1E-06 0.700 1.000 11 2005 2016
dbSNP: rs63751207
rs63751207
6 0.851 0.240 2 47466718 missense variant G/A;C;T snv 8.0E-06 0.710 1.000 11 1994 2012
dbSNP: rs63750636
rs63750636
6 0.851 0.240 2 47476492 stop gained C/T snv 7.0E-06 0.700 1.000 9 1998 2014
dbSNP: rs1553361141
rs1553361141
1 1.000 0.160 2 47445546 splice donor variant AAAACACCAGAAATTATTGTTGGCAGTTTTTGTGACTCCTCTTACTGATCTTCGTTCTGACTTCTCCAAGTTTCAGGAAATGATAGAAACAACTTTAGATATGGATCAGG/- delins 0.700 1.000 8 2003 2013
dbSNP: rs193922376
rs193922376
4 0.925 0.160 2 47414421 splice region variant A/G;T snv 3.3E-05 0.700 1.000 8 1996 2012
dbSNP: rs267607996
rs267607996
2 0.925 0.160 2 47476382 missense variant G/A;C snv 0.700 1.000 8 1999 2018
dbSNP: rs267608120
rs267608120
4 0.925 0.160 2 47806606 frameshift variant CAAG/- delins 0.700 1.000 8 2003 2015
dbSNP: rs63750070
rs63750070
3 0.882 0.160 2 47410245 missense variant T/C;G snv 0.700 1.000 8 2005 2011
dbSNP: rs63750258
rs63750258
5 0.851 0.200 2 47800966 stop gained G/A;C;T snv 0.700 1.000 8 2001 2015
dbSNP: rs63750521
rs63750521
1 1.000 0.160 2 47445644 stop gained T/C;G snv 0.700 1.000 8 1994 2005
dbSNP: rs63751327
rs63751327
4 0.925 0.160 2 47804984 frameshift variant -/A;AA delins 0.700 1.000 8 1999 2010
dbSNP: rs587779157
rs587779157
6 0.827 0.240 2 47408486 inframe deletion GAAGTT/- delins 0.700 1.000 7 2000 2019