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: rs267608078
rs267608078
5 0.882 0.160 2 47803501 frameshift variant C/-;CC;CCC delins 0.700 1.000 19 1997 2015
dbSNP: rs28929483
rs28929483
4 0.925 0.160 2 47475130 missense variant C/A;G;T snv 0.700 1.000 13 1993 2014
dbSNP: rs63750767
rs63750767
4 0.925 0.160 2 47806588 stop gained -/TCAAAAGGGACATAGAAAA delins 7.0E-06 0.700 1.000 13 2005 2016
dbSNP: rs63750828
rs63750828
4 0.925 0.160 2 47416351 missense variant G/A snv 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 10 2005 2016
dbSNP: rs63749831
rs63749831
4 0.925 0.160 2 47475051 inframe deletion AAT/- del 4.0E-06 0.700 1.000 10 1994 2012
dbSNP: rs63750393
rs63750393
4 0.925 0.160 2 47471007 frameshift variant GA/-;GAGA delins 0.700 1.000 10 2002 2013
dbSNP: rs63750875
rs63750875
15 0.742 0.280 2 47475171 missense variant G/A;C snv 1.6E-05 0.700 1.000 10 2002 2014
dbSNP: rs193922376
rs193922376
4 0.925 0.160 2 47414421 splice region variant A/G;T snv 3.3E-05 0.700 1.000 9 1994 2014
dbSNP: rs587779227
rs587779227
4 0.925 0.160 2 47800040 missense variant G/A snv 1.4E-05 0.700 1.000 9 2008 2017
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 9 2004 2017
dbSNP: rs63751319
rs63751319
4 0.925 0.160 2 47806490 frameshift variant GGAGACT/- del 0.700 1.000 9 2005 2014
dbSNP: rs63751618
rs63751618
4 0.925 0.160 2 47480866 frameshift variant AG/- delins 0.700 1.000 9 1995 2016
dbSNP: rs267608120
rs267608120
4 0.925 0.160 2 47806606 frameshift variant CAAG/- delins 0.700 1.000 8 2003 2016
dbSNP: rs587779067
rs587779067
5 0.882 0.200 2 47416399 missense variant C/G;T snv 0.700 1.000 8 2004 2016
dbSNP: rs63749849
rs63749849
6 0.851 0.240 2 47429812 stop gained C/T snv 0.700 1.000 8 1995 2015
dbSNP: rs63749873
rs63749873
5 0.882 0.160 2 47795903 stop gained C/G snv 4.0E-06 1.4E-05 0.700 1.000 8 1999 2014
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 8 1997 2012
dbSNP: rs63749942
rs63749942
3 1.000 0.160 2 47806279 inframe deletion CGT/- delins 0.700 1.000 8 2007 2016
dbSNP: rs63750086
rs63750086
5 0.882 0.200 2 47429891 frameshift variant AG/- del 0.700 1.000 8 1996 2016
dbSNP: rs63750508
rs63750508
6 0.851 0.240 2 47475126 stop gained C/G;T snv 0.700 1.000 8 1996 2014
dbSNP: rs63750636
rs63750636
6 0.851 0.240 2 47476492 stop gained C/T snv 7.0E-06 0.700 1.000 8 2001 2008
dbSNP: rs760190301
rs760190301
3 1.000 0.160 2 47806582 frameshift variant -/GTTA delins 4.0E-06 0.700 1.000 8 1998 2017
dbSNP: rs267607969
rs267607969
4 0.925 0.160 2 47466809 splice donor variant G/A;T snv 0.700 1.000 7 2003 2014
dbSNP: rs267608121
rs267608121
4 0.925 0.160 2 47806630 frameshift variant -/GTCA delins 0.700 1.000 7 2003 2015