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: rs63750781
rs63750781
6 0.851 0.160 3 37004444 missense variant C/G;T snv 4.0E-06 0.710 1.000 39 1996 2013
dbSNP: rs267608078
rs267608078
5 0.882 0.160 2 47803501 frameshift variant C/-;CC;CCC delins 0.700 1.000 33 1997 2017
dbSNP: rs63751194
rs63751194
7 0.851 0.160 3 37017508 missense variant C/A;T snv 4.0E-06 0.710 1.000 25 1999 2014
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: 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: rs63751711
rs63751711
4 0.925 0.160 3 37012099 missense variant G/A;T snv 0.700 1.000 13 1996 2016
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: 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: rs63750792
rs63750792
4 0.925 0.160 3 36993630 missense variant C/T snv 0.700 1.000 12 1999 2013
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: 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: 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: 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: 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
dbSNP: rs63750521
rs63750521
1 1.000 0.160 2 47445644 stop gained T/C;G snv 0.700 1.000 8 1994 2005
dbSNP: rs63751221
rs63751221
4 0.925 0.160 3 37001045 stop gained C/T snv 7.0E-06 0.700 1.000 8 2000 2009
dbSNP: rs63751327
rs63751327
4 0.925 0.160 2 47804984 frameshift variant -/A;AA delins 0.700 1.000 8 1999 2010