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: 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 18 2004 2017
dbSNP: rs267608078
rs267608078
5 0.882 0.160 2 47803501 frameshift variant C/-;CC;CCC delins 0.700 1.000 16 1997 2017
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 14 1999 2015
dbSNP: rs63751017
rs63751017
6 0.851 0.240 2 47800714 stop gained C/A;T snv 1.4E-05 0.700 1.000 13 2003 2017
dbSNP: rs63751327
rs63751327
4 0.925 0.160 2 47804984 frameshift variant -/A;AA delins 0.700 1.000 12 1999 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 9 2006 2016
dbSNP: rs267608120
rs267608120
4 0.925 0.160 2 47806606 frameshift variant CAAG/- delins 0.700 1.000 9 2003 2014
dbSNP: rs63750909
rs63750909
4 0.925 0.160 2 47799427 stop gained C/A;G;T snv 4.0E-06 0.700 1.000 9 2004 2017
dbSNP: rs267608092
rs267608092
4 0.925 0.160 2 47803553 frameshift variant TT/-;T;TTT delins 0.700 1.000 8 2002 2016
dbSNP: rs267608121
rs267608121
4 0.925 0.160 2 47806630 frameshift variant -/GTCA delins 0.700 1.000 8 2003 2016
dbSNP: rs587779227
rs587779227
4 0.925 0.160 2 47800040 missense variant G/A snv 1.4E-05 0.700 1.000 8 2008 2017
dbSNP: rs587779279
rs587779279
3 1.000 0.160 2 47806203 splice acceptor variant G/A snv 0.700 1.000 7 2009 2016
dbSNP: rs63750138
rs63750138
6 0.851 0.160 2 47800297 missense variant C/A;G;T snv 2.0E-05; 8.0E-06 0.700 1.000 7 1994 2015
dbSNP: rs63750741
rs63750741
8 0.827 0.200 2 47799329 missense variant T/C snv 1.2E-05 0.700 1.000 7 2004 2016
dbSNP: rs1316409501
rs1316409501
2 1.000 0.160 2 47803663 missense variant G/A;T snv 4.0E-06 0.700 1.000 6 2005 2017
dbSNP: rs267608122
rs267608122
4 0.925 0.160 2 47806651 missense variant G/A;C snv 0.700 1.000 6 1999 2016
dbSNP: rs63749942
rs63749942
3 1.000 0.160 2 47806279 inframe deletion CGT/- delins 0.700 1.000 6 2007 2016
dbSNP: rs63749999
rs63749999
6 0.851 0.240 2 47801086 stop gained C/T snv 1.2E-05 0.700 1.000 6 1999 2016
dbSNP: rs63750955
rs63750955
4 0.925 0.160 2 47798633 frameshift variant -/T delins 1.4E-05 0.700 1.000 6 1999 2010
dbSNP: rs786201042
rs786201042
7 0.827 0.240 2 47783243 stop gained C/G;T snv 2.5E-05 0.700 1.000 6 2010 2018
dbSNP: rs267608058
rs267608058
6 0.851 0.200 2 47800130 frameshift variant TCAG/- delins 7.0E-06 0.700 1.000 5 1999 2012
dbSNP: rs587782386
rs587782386
1 2 47800909 missense variant C/T snv 7.0E-06 0.700 1.000 5 2002 2015
dbSNP: rs63750647
rs63750647
1 2 47800283 inframe deletion CCT/- delins 0.700 1.000 5 2007 2014
dbSNP: rs63750854
rs63750854
3 1.000 0.160 2 47799402 frameshift variant -/TG delins 0.700 1.000 5 2002 2013
dbSNP: rs63750949
rs63750949
6 0.827 0.080 2 47806213 missense variant C/A;T snv 0.700 1.000 5 2002 2013