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: rs781139634
rs781139634
2 2 25235768 stop gained G/A snv 7.0E-06 0.700 1.000 36 1989 2018
dbSNP: rs767199598
rs767199598
1 9 127682451 stop gained C/A;T snv 0.700 1.000 27 1998 2016
dbSNP: rs875989786
rs875989786
2 1.000 1 244054957 stop gained C/T snv 0.700 1.000 26 1997 2017
dbSNP: rs587783685
rs587783685
5 0.925 0.120 12 49032113 stop gained G/A snv 0.700 1.000 25 1988 2017
dbSNP: rs1553749681
rs1553749681
4 0.925 3 51064514 stop gained C/T snv 0.700 1.000 23 2000 2018
dbSNP: rs1064796453
rs1064796453
2 3 41235799 stop gained C/A;T snv 0.700 1.000 22 1991 2017
dbSNP: rs775104326
rs775104326
10 0.776 0.160 3 41224995 stop gained C/A;T snv 4.0E-06 0.700 1.000 22 1991 2017
dbSNP: rs1413339367
rs1413339367
1 1 42930661 stop gained G/A snv 0.700 1.000 21 1991 2016
dbSNP: rs1553156053
rs1553156053
3 1.000 1 42929652 stop gained G/A snv 0.700 1.000 21 1991 2016
dbSNP: rs1555254256
rs1555254256
3 1.000 13 23354906 stop gained C/T snv 0.700 1.000 21 1993 2016
dbSNP: rs1557082399
rs1557082399
4 1.000 X 77593803 stop gained C/T snv 0.700 1.000 21 1992 2017
dbSNP: rs886041166
rs886041166
3 1.000 8 60742366 stop gained C/T snv 0.700 1.000 20 1999 2016
dbSNP: rs61750240
rs61750240
19 0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06 0.700 1.000 19 1993 2016
dbSNP: rs767889331
rs767889331
2 18 7012105 stop gained G/A;C;T snv 2.0E-05; 4.0E-06; 4.0E-06 0.700 1.000 14 1981 2016
dbSNP: rs149474131
rs149474131
1 16 89513008 stop gained C/A;G;T snv 4.0E-06; 5.7E-05; 4.9E-05 0.700 1.000 13 2012 2017
dbSNP: rs1553212545
rs1553212545
3 1.000 1 151406046 stop gained G/A snv 0.700 1.000 13 1999 2017
dbSNP: rs1555977248
rs1555977248
3 1.000 X 41542781 stop gained T/A snv 0.700 1.000 13 2008 2015
dbSNP: rs917027829
rs917027829
3 1.000 5 150069942 stop gained G/A;T snv 4.0E-06 0.700 1.000 13 1984 2014
dbSNP: rs1556837420
rs1556837420
2 1.000 X 53196897 stop gained G/A snv 0.700 1.000 12 2005 2016
dbSNP: rs587781196
rs587781196
2 1.000 0.080 15 25370913 stop gained G/A snv 0.700 1.000 12 1990 2015
dbSNP: rs779340209
rs779340209
1 20 50892501 stop gained G/C snv 0.700 1.000 11 2001 2017
dbSNP: rs146278035
rs146278035
4 0.925 0.080 16 57651421 stop gained C/T snv 4.0E-06 7.0E-06 0.700 1.000 10 2003 2015
dbSNP: rs1554139771
rs1554139771
3 5 88804732 stop gained CA/- delins 0.700 1.000 10 2007 2016
dbSNP: rs1556213001
rs1556213001
1 X 120544122 stop gained C/A snv 0.700 1.000 10 2000 2017
dbSNP: rs1557084549
rs1557084549
1 X 49078050 stop gained G/A snv 0.700 1.000 10 2010 2017