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 33 1997 2017
dbSNP: rs121913377
rs121913377
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.100 0.957 23 2004 2019
dbSNP: rs63750206
rs63750206
9 0.807 0.200 3 36996701 missense variant G/A;C;T snv 0.720 0.947 19 1995 2014
dbSNP: rs63751247
rs63751247
5 0.882 0.200 3 37047632 inframe deletion AAG/- delins 0.700 1.000 16 1997 2018
dbSNP: rs587779075
rs587779075
5 0.882 0.200 2 47429830 stop gained C/T snv 0.700 1.000 15 1997 2013
dbSNP: rs63750217
rs63750217
10 0.807 0.240 3 37048955 missense variant G/A;C snv 0.720 1.000 15 1975 2017
dbSNP: rs267608150
rs267608150
7 0.851 0.320 7 5997388 stop gained AGGGGG/CTTCACAAC;CTTCACACACA;NNNNNNNNNNN delins 0.700 1.000 14 2006 2016
dbSNP: rs63749795
rs63749795
8 0.807 0.240 3 37028833 stop gained C/T snv 0.700 1.000 14 1992 2016
dbSNP: rs63750828
rs63750828
4 0.925 0.160 2 47416351 missense variant G/A snv 0.700 1.000 13 2003 2017
dbSNP: rs63751711
rs63751711
4 0.925 0.160 3 37012099 missense variant G/A;T snv 0.700 1.000 13 1996 2016
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: rs63749909
rs63749909
4 0.925 0.160 3 37028891 missense variant T/A;C snv 7.0E-06 0.700 1.000 12 1996 2015
dbSNP: rs63750792
rs63750792
4 0.925 0.160 3 36993630 missense variant C/T snv 0.700 1.000 12 1999 2013
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: rs63750453
rs63750453
5 0.882 0.160 3 37001051 missense variant G/A snv 0.700 1.000 11 2001 2015
dbSNP: rs63750437
rs63750437
4 0.925 0.160 3 37000977 missense variant G/A;C snv 0.700 1.000 10 1997 2014
dbSNP: rs63750641
rs63750641
2 0.925 0.160 3 37000997 missense variant A/G snv 0.700 1.000 10 1999 2010
dbSNP: rs1060503115
rs1060503115
13 0.763 0.400 7 5978664 missense variant T/A;G snv 0.090 0.889 9 2007 2019
dbSNP: rs267607789
rs267607789
3 1.000 0.160 3 37014545 splice donor variant G/A;C;T snv 0.700 1.000 9 1996 2016
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: 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: rs63749906
rs63749906
2 0.925 0.160 3 36993651 missense variant T/G snv 0.700 1.000 8 1995 2007
dbSNP: rs63750070
rs63750070
3 0.882 0.160 2 47410245 missense variant T/C;G snv 0.700 1.000 8 2005 2011