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: rs1555284442
rs1555284442
1 13 32340234 frameshift variant G/- del 0.700 1.000 1 2004 2004
dbSNP: rs276174819
rs276174819
3 0.925 0.200 13 32336524 frameshift variant -/A delins 0.700 1.000 1 2016 2016
dbSNP: rs397507643
rs397507643
2 1.000 13 32337181 frameshift variant TTAA/- delins 0.700 1.000 1 2004 2004
dbSNP: rs397507710
rs397507710
2 1.000 13 32338504 frameshift variant T/- delins 0.700 1.000 1 2016 2016
dbSNP: rs397507828
rs397507828
3 1.000 13 32340440 stop gained G/T snv 0.700 1.000 1 2004 2004
dbSNP: rs398122710
rs398122710
1 13 32371100 missense variant G/A snv 0.700 1.000 1 2016 2016
dbSNP: rs483353111
rs483353111
3 0.925 0.200 13 32336949 frameshift variant A/- delins 0.700 1.000 1 2004 2004
dbSNP: rs587782780
rs587782780
4 0.925 0.200 13 32336414 frameshift variant GATTA/- del 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs771203198
rs771203198
3 0.925 0.200 13 32394750 stop gained G/A;C snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs80358427
rs80358427
10 0.776 0.280 13 32332877 stop gained A/T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs80358529
rs80358529
4 0.925 0.200 13 32319283 stop gained C/T snv 0.700 1.000 1 2016 2016
dbSNP: rs80358785
rs80358785
9 0.790 0.240 13 32340000 stop gained C/A;G snv 1.6E-05 0.700 1.000 1 2016 2016
dbSNP: rs80358920
rs80358920
12 0.732 0.400 13 32346841 stop gained C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs80359212
rs80359212
11 0.763 0.320 13 32394814 stop gained C/T snv 1.2E-05 4.2E-05 0.700 1.000 1 2016 2016
dbSNP: rs80359351
rs80359351
6 0.851 0.200 13 32337161 frameshift variant ACAA/- delins 2.1E-05 0.700 1.000 1 2016 2016
dbSNP: rs80359584
rs80359584
8 0.807 0.280 13 32340757 frameshift variant CTTAA/- delins 4.2E-06 1.4E-05 0.700 1.000 1 2016 2016
dbSNP: rs80359603
rs80359603
2 1.000 13 32340907 frameshift variant G/- delins 0.700 1.000 1 2016 2016
dbSNP: rs80359706
rs80359706
3 1.000 13 32363522 frameshift variant -/T delins 0.700 1.000 1 2016 2016
dbSNP: rs80359759
rs80359759
4 0.925 0.200 13 32394832 frameshift variant G/- delins 0.700 1.000 1 2016 2016
dbSNP: rs81002796
rs81002796
4 0.925 0.200 13 32316528 splice donor variant G/A;C;T snv 0.700 1.000 1 2016 2016
dbSNP: rs878853297
rs878853297
4 0.925 0.200 13 32319166 frameshift variant AA/-;A;AAA delins 0.700 1.000 1 2016 2016
dbSNP: rs886037797
rs886037797
1 13 32332667 frameshift variant AACTAACC/- delins 0.700 1.000 1 2016 2016
dbSNP: rs886037798
rs886037798
2 1.000 13 32340886 frameshift variant -/C delins 0.700 1.000 1 2016 2016
dbSNP: rs886037799
rs886037799
2 1.000 13 32338503 frameshift variant AT/- del 0.700 1.000 1 2016 2016
dbSNP: rs886037800
rs886037800
2 1.000 13 32338395 frameshift variant TT/-;TTT delins 0.700 1.000 1 2016 2016