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 0
dbSNP: rs63750735
rs63750735
3 0.925 0.160 2 47799789 frameshift variant AAAG/- del 0.700 0
dbSNP: rs63750897
rs63750897
1 1.000 0.160 2 47799491 missense variant C/G;T snv 6.2E-04 5.7E-04 0.700 0
dbSNP: rs63750955
rs63750955
4 0.925 0.160 2 47798633 frameshift variant -/T delins 1.4E-05 0.700 0
dbSNP: rs63750998
rs63750998
2 0.925 0.160 2 47803506 missense variant C/A;G;T snv 9.5E-05; 7.2E-05; 1.1E-04 0.700 0
dbSNP: rs63751234
rs63751234
1 1.000 0.160 2 47799585 frameshift variant C/- del 0.700 0
dbSNP: rs63751328
rs63751328
2 1.000 0.160 2 47805638 missense variant G/A;C snv 4.0E-06 0.700 0
dbSNP: rs63751407
rs63751407
2 0.925 0.160 2 47801034 frameshift variant TC/- delins 0.700 0
dbSNP: rs777159874
rs777159874
2 1.000 0.160 2 47799853 frameshift variant G/- delins 0.700 0
dbSNP: rs786201084
rs786201084
3 1.000 0.160 2 47806300 frameshift variant -/T ins 0.700 0
dbSNP: rs864622153
rs864622153
3 1.000 0.160 2 47799674 stop gained C/A;G;T snv 4.0E-06 0.700 0
dbSNP: rs876660943
rs876660943
5 0.882 0.240 2 47806359 splice donor variant G/T snv 7.0E-06 0.700 0
dbSNP: rs876661222
rs876661222
4 0.925 0.160 2 47806309 stop gained -/ATTA delins 0.700 0
dbSNP: rs267608078
rs267608078
5 0.882 0.160 2 47803501 frameshift variant C/-;CC;CCC delins 0.700 1.000 2 1999 2008
dbSNP: rs63751319
rs63751319
4 0.925 0.160 2 47806490 frameshift variant GGAGACT/- del 0.700 1.000 2 2006 2008
dbSNP: rs63751327
rs63751327
4 0.925 0.160 2 47804984 frameshift variant -/A;AA delins 0.700 1.000 3 2007 2010
dbSNP: rs267608098
rs267608098
4 0.925 0.160 2 47804908 splice acceptor variant A/G;T snv 0.700 1.000 2 1999 2010
dbSNP: rs587779241
rs587779241
3 0.925 0.160 2 47800517 frameshift variant -/T delins 0.700 1.000 1 2010 2010
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 3 2006 2011
dbSNP: rs267608120
rs267608120
4 0.925 0.160 2 47806606 frameshift variant CAAG/- delins 0.700 1.000 3 2003 2011
dbSNP: rs63750909
rs63750909
4 0.925 0.160 2 47799427 stop gained C/A;G;T snv 4.0E-06 0.700 1.000 2 2004 2011
dbSNP: rs201735525
rs201735525
1 1.000 0.160 2 47799813 missense variant G/A;C;T snv 8.0E-06 0.700 1.000 9 1997 2012
dbSNP: rs2020908
rs2020908
1 1.000 0.160 2 47799169 missense variant C/G snv 5.4E-03 5.5E-03 0.700 1.000 9 1997 2012
dbSNP: rs267608026
rs267608026
1 1.000 0.160 2 47783306 missense variant G/T snv 1.4E-04 2.2E-04 0.700 1.000 9 1997 2012
dbSNP: rs267608054
rs267608054
1 1.000 0.160 2 47801059 missense variant G/C;T snv 0.700 1.000 9 1997 2012