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: rs1131690935
rs1131690935
1 19 1221973 inframe deletion GGTTCTCCATCCGGCAGA/- delins 0.700 1.000 7 1992 2014
dbSNP: rs121913315
rs121913315
5 0.882 0.160 19 1220488 missense variant G/A;T snv 0.700 1.000 7 1999 2013
dbSNP: rs1131690950
rs1131690950
2 1.000 0.160 19 1207204 splice donor variant G/A;C snv 0.700 1.000 6 2001 2015
dbSNP: rs1131690940
rs1131690940
2 1.000 0.160 19 1220641 stop gained C/T snv 0.700 1.000 5 1998 2006
dbSNP: rs730881973
rs730881973
1 19 1220451 missense variant C/A;G snv 0.700 1.000 5 1999 2013
dbSNP: rs886037859
rs886037859
2 1.000 0.160 19 1220450 missense variant A/G snv 0.700 1.000 5 1999 2013
dbSNP: rs1131690951
rs1131690951
1 19 1218501 splice donor variant A/G snv 0.700 1.000 4 2002 2007
dbSNP: rs376280361
rs376280361
1 19 1221997 missense variant G/A;C snv 3.9E-05 0.700 1.000 4 1998 2009
dbSNP: rs397518440
rs397518440
2 1.000 0.160 19 1219367 frameshift variant C/- del 0.700 1.000 4 1998 2007
dbSNP: rs730881972
rs730881972
2 1.000 0.080 19 1220395 missense variant G/C;T snv 0.700 1.000 4 1999 2015
dbSNP: rs778376925
rs778376925
2 1.000 0.160 19 1207093 stop gained C/A;G;T snv 1.2E-05 0.700 1.000 4 1998 2014
dbSNP: rs121913321
rs121913321
2 1.000 0.160 19 1221315 frameshift variant CC/-;C;CCC delins 0.700 1.000 3 2005 2005
dbSNP: rs137853076
rs137853076
2 1.000 0.160 19 1207163 stop gained A/G;T snv 4.1E-06 0.700 1.000 3 1998 2007
dbSNP: rs886039554
rs886039554
2 1.000 0.160 19 1220506 splice donor variant G/T snv 0.700 1.000 3 2006 2010
dbSNP: rs1131690916
rs1131690916
1 19 1207059 inframe deletion ATGGGGGACCTG/- delins 0.700 1.000 2 2009 2013
dbSNP: rs1131690934
rs1131690934
1 19 1220579 splice acceptor variant A/G snv 0.700 1.000 2 2001 2006
dbSNP: rs121913324
rs121913324
3 1.000 0.160 19 1207022 stop gained C/T snv 0.700 1.000 2 2004 2006
dbSNP: rs137853077
rs137853077
2 1.000 0.160 19 1207113 missense variant T/C snv 0.700 1.000 2 1998 2006
dbSNP: rs587782018
rs587782018
1 19 1220718 splice donor variant G/C;T snv 0.700 1.000 2 2001 2003
dbSNP: rs730881969
rs730881969
1 19 1219345 stop gained C/A;T snv 0.700 1.000 2 2001 2003
dbSNP: rs9282859
rs9282859
1 19 1221294 stop gained C/G;T snv 5.8E-03 0.700 1.000 2 2003 2006
dbSNP: rs1131690917
rs1131690917
2 1.000 0.160 19 1207066 frameshift variant GGG/-;G;GGGG delins 0.700 1.000 1 2001 2001
dbSNP: rs1131690931
rs1131690931
1 19 1220371 splice acceptor variant A/C snv 0.700 1.000 1 2001 2001
dbSNP: rs1131690947
rs1131690947
1 19 1221962 frameshift variant C/- del 0.700 1.000 1 2010 2010
dbSNP: rs121913319
rs121913319
1 19 1207078 frameshift variant G/-;GG delins 0.700 1.000 1 1998 1998