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: 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: 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: 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
dbSNP: rs886037803
rs886037803
2 1.000 13 32338188 frameshift variant TA/- delins 0.700 1.000 1 2016 2016
dbSNP: rs886037804
rs886037804
2 1.000 13 32379805 frameshift variant A/- delins 0.700 1.000 1 2016 2016
dbSNP: rs886037805
rs886037805
2 1.000 13 32398266 frameshift variant G/- del 0.700 1.000 1 2016 2016
dbSNP: rs1057518635
rs1057518635
2 1.000 13 32340367 frameshift variant ATAG/- delins 0.700 0
dbSNP: rs1057518637
rs1057518637
3 1.000 13 32336621 stop gained C/G;T snv 0.700 0
dbSNP: rs1057518638
rs1057518638
2 1.000 13 32339317 stop gained T/A snv 0.700 0
dbSNP: rs1131692035
rs1131692035
2 1.000 13 32332335 stop gained C/G snv 0.700 0
dbSNP: rs1555280073
rs1555280073
1 13 32316454 start lost TAAAAATGCCTATTGG/- delins 0.700 0
dbSNP: rs1555281594
rs1555281594
2 1.000 13 32332276 frameshift variant -/G delins 0.700 0
dbSNP: rs1555282830
rs1555282830
2 1.000 13 32337109 frameshift variant C/- del 0.700 0
dbSNP: rs1555283169
rs1555283169
2 1.000 13 32337677 stop gained A/T snv 0.700 0
dbSNP: rs397507644
rs397507644
2 1.000 13 32337198 frameshift variant T/- delins 0.700 0
dbSNP: rs397507649
rs397507649
2 1.000 13 32337345 stop gained T/A;G snv 0.700 0
dbSNP: rs397507967
rs397507967
2 1.000 13 32363397 stop gained T/A;G snv 0.700 0