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: rs80359035
rs80359035
4 0.882 0.200 13 32363211 stop gained C/A;G;T snv 0.700 1.000 18 2004 2017
dbSNP: rs80359550
rs80359550
8 0.807 0.280 13 32340301 frameshift variant T/- del 1.8E-04 0.700 1.000 16 1996 2013
dbSNP: rs11571658
rs11571658
6 0.851 0.240 13 32340630 frameshift variant TT/- del 2.8E-05 0.700 1.000 15 1996 2012
dbSNP: rs80359152
rs80359152
5 0.851 0.200 13 32379800 missense variant G/A snv 0.700 1.000 14 2008 2015
dbSNP: rs80359479
rs80359479
3 0.925 0.200 13 32339422 frameshift variant AAAA/-;AAA;AAAAA;AAAAAAAAAA delins 0.700 1.000 14 2001 2014
dbSNP: rs28897743
rs28897743
8 0.827 0.280 13 32346896 missense variant G/A;C;T snv 4.0E-06 0.700 1.000 13 2002 2019
dbSNP: rs397507954
rs397507954
3 0.925 0.200 13 32363225 missense variant A/G snv 4.0E-06 0.700 1.000 13 2008 2019
dbSNP: rs41293513
rs41293513
4 0.882 0.200 13 32363370 missense variant A/C;G;T snv 4.0E-06 0.700 1.000 13 2007 2017
dbSNP: rs80359351
rs80359351
6 0.851 0.200 13 32337161 frameshift variant ACAA/- delins 2.1E-05 0.700 1.000 12 1996 2013
dbSNP: rs80359507
rs80359507
4 0.882 0.200 13 32339700 frameshift variant AAA/-;A;AA;AAAA;AAAAA delins 2.8E-05 0.700 1.000 12 1997 2014
dbSNP: rs80358871
rs80358871
3 0.925 0.200 13 32326613 missense variant G/A;C snv 0.700 1.000 10 2003 2016
dbSNP: rs80359071
rs80359071
6 0.882 0.200 13 32363445 missense variant G/A snv 8.0E-06 0.700 1.000 10 2004 2016
dbSNP: rs80359316
rs80359316
3 0.925 0.200 13 32336284 frameshift variant G/- del 0.700 1.000 10 1997 2013
dbSNP: rs80359380
rs80359380
5 0.851 0.200 13 32337618 frameshift variant -/T;TT delins 0.700 1.000 10 2002 2014
dbSNP: rs80359454
rs80359454
4 0.882 0.200 13 32338828 frameshift variant AAAG/- delins 0.700 1.000 10 1996 2014
dbSNP: rs80359714
rs80359714
3 0.925 0.200 13 32371001 frameshift variant AGAG/-;AG delins 1.2E-05 0.700 1.000 10 1996 2014
dbSNP: rs81002823
rs81002823
3 0.925 0.200 13 32354859 splice acceptor variant A/G;T snv 0.700 1.000 10 2009 2019
dbSNP: rs80358711
rs80358711
3 0.925 0.200 13 32339244 stop gained C/A;G;T snv 8.0E-06 0.700 1.000 9 2000 2014
dbSNP: rs80359013
rs80359013
4 0.882 0.280 13 32362595 stop gained G/A;C snv 8.0E-06 0.700 1.000 9 2002 2016
dbSNP: rs80359405
rs80359405
5 0.851 0.200 13 32338201 frameshift variant GT/- delins 0.700 1.000 9 1996 2015
dbSNP: rs80359604
rs80359604
10 0.763 0.320 13 32329468 frameshift variant GT/- delins 0.700 1.000 9 1998 2014
dbSNP: rs80359616
rs80359616
3 0.925 0.200 13 32340999 frameshift variant ACTC/- del 7.0E-06 0.700 1.000 9 1997 2016
dbSNP: rs80359636
rs80359636
7 0.851 0.240 13 32354921 frameshift variant CT/- delins 2.8E-05 0.700 1.000 9 2005 2013
dbSNP: rs80358972
rs80358972
12 0.742 0.480 13 32356472 stop gained C/A;T snv 8.0E-06; 3.2E-05 0.700 1.000 8 1997 2015
dbSNP: rs41293511
rs41293511
10 0.763 0.320 13 32363369 missense variant G/A;C snv 7.0E-06 0.700 1.000 7 2007 2014