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: rs1420691965
rs1420691965
1 14 92006354 frameshift variant T/- delins 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1429820082
rs1429820082
1 14 91999314 frameshift variant CTCT/- delins 8.0E-06 0.700 0
dbSNP: rs1566859649
rs1566859649
1 14 92004982 frameshift variant TT/- delins 0.700 0
dbSNP: rs786204675
rs786204675
2 1.000 0.080 5 149978101 frameshift variant T/- delins 0.700 1.000 2 1996 2001
dbSNP: rs886044555
rs886044555
3 0.925 0.080 12 47985772 missense variant C/T snv 0.010 1.000 1 2017 2017
dbSNP: rs1566860640
rs1566860640
2 1.000 0.080 14 92005847 frameshift variant TA/- delins 0.700 0
dbSNP: rs121908077
rs121908077
5 0.851 0.120 5 149980603 inframe insertion TGTTGT/-;TGT;TGTTGTTGT delins 3.5E-05 0.700 1.000 4 1996 2004
dbSNP: rs104893919
rs104893919
5 0.851 0.120 5 149978184 stop gained C/T snv 1.3E-04 1.2E-04 0.700 1.000 3 1996 2011
dbSNP: rs104893924
rs104893924
5 0.851 0.120 5 149981550 missense variant T/A snv 1.1E-04 1.3E-04 0.700 1.000 3 2003 2012
dbSNP: rs386833498
rs386833498
5 0.851 0.120 5 149981316 frameshift variant A/- delins 0.700 1.000 2 1996 1996
dbSNP: rs386833492
rs386833492
5 0.851 0.120 5 149960981 splice donor variant T/C snv 5.4E-04 0.700 1.000 1 1999 1999
dbSNP: rs386833507
rs386833507
2 1.000 0.120 5 149977707 stop gained G/T snv 0.700 1.000 1 2001 2001
dbSNP: rs74315304
rs74315304
3 0.925 0.120 1 150799228 missense variant G/A;T snv 4.0E-06; 4.0E-06 0.010 1.000 1 1998 1998
dbSNP: rs763198695
rs763198695
5 0.851 0.120 5 149978135 frameshift variant TG/- delins 4.0E-06 7.0E-06 0.700 1.000 1 2010 2010
dbSNP: rs149079426
rs149079426
2 1.000 0.120 14 92021558 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs1566843321
rs1566843321
2 1.000 0.120 14 91975213 missense variant T/C snv 0.700 0
dbSNP: rs1566863801
rs1566863801
2 1.000 0.120 14 92011072 missense variant C/A snv 0.700 0
dbSNP: rs766836061
rs766836061
5 0.851 0.120 5 149981300 stop gained C/G;T snv 4.0E-06 0.700 0
dbSNP: rs780625551
rs780625551
2 1.000 0.120 14 92003442 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs104893915
rs104893915
10 0.776 0.200 5 149980428 missense variant C/T snv 9.8E-04 1.0E-03 0.700 1.000 3 2004 2011
dbSNP: rs774568856
rs774568856
4 0.882 0.200 6 83174481 missense variant A/G snv 1.7E-05 7.0E-06 0.010 1.000 1 2017 2017
dbSNP: rs587777512
rs587777512
7 0.827 0.320 4 150583180 missense variant C/G;T snv 0.010 1.000 1 2015 2015
dbSNP: rs78311289
rs78311289
25 0.689 0.440 4 1806162 missense variant A/C;G snv 4.0E-06 0.020 1.000 2 2001 2007
dbSNP: rs28933068
rs28933068
30 0.645 0.560 4 1805644 missense variant C/A;G;T snv 1.6E-05 0.010 1.000 1 2000 2000
dbSNP: rs121913105
rs121913105
30 0.653 0.600 4 1806163 missense variant A/C;T snv 0.020 1.000 2 2015 2016