Source: ALL
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: rs587781228
rs587781228
UBE3A ; SNHG14
1 1.000 0.080 15 25339207 stop gained G/C snv 0.700 1.000 5 1999 2016
dbSNP: rs1555379745
rs1555379745
UBE3A ; SNHG14
1 1.000 0.080 15 25339174 stop gained -/TCAACAATCTCTCTTTAAGTTTTTCTTTGCTTGAGTATTCCGGAAGTAAAAGCACATTA delins 0.700 1.000 1 2014 2014
dbSNP: rs398124440
rs398124440
UBE3A ; SNHG14
1 1.000 0.080 15 25339190 stop gained AAGT/-;AAGTAAGT delins 0.700 1.000 1 2014 2014
dbSNP: rs587780575
rs587780575
UBE3A ; SNHG14
1 1.000 0.080 15 25371426 stop gained C/A snv 0.700 1.000 1 2014 2014
dbSNP: rs587780576
rs587780576
UBE3A ; SNHG14
1 1.000 0.080 15 25371397 stop gained A/T snv 0.700 1.000 1 2014 2014
dbSNP: rs587781190
rs587781190
UBE3A ; SNHG14
1 1.000 0.080 15 25371364 stop gained A/T snv 0.700 1.000 1 2014 2014
dbSNP: rs587781191
rs587781191
UBE3A ; SNHG14
1 1.000 0.080 15 25371153 stop gained G/A snv 0.700 1.000 1 2014 2014
dbSNP: rs587781193
rs587781193
UBE3A ; SNHG14
1 1.000 0.080 15 25371046 stop gained -/T delins 0.700 1.000 1 2014 2014
dbSNP: rs587781195
rs587781195
UBE3A ; SNHG14
1 1.000 0.080 15 25371000 stop gained C/A snv 0.700 1.000 1 2014 2014
dbSNP: rs587781196
rs587781196
UBE3A ; SNHG14
2 1.000 0.080 15 25370913 stop gained G/A snv 0.700 1.000 1 2014 2014
dbSNP: rs587781197
rs587781197
UBE3A ; SNHG14
1 1.000 0.080 15 25370844 stop gained C/A snv 0.700 1.000 1 2014 2014
dbSNP: rs587781198
rs587781198
UBE3A ; SNHG14
1 1.000 0.080 15 25370829 stop gained C/A snv 0.700 1.000 1 2014 2014
dbSNP: rs587781201
rs587781201
UBE3A ; SNHG14
1 1.000 0.080 15 25370743 stop gained A/T snv 0.700 1.000 1 2014 2014
dbSNP: rs587781208
rs587781208
UBE3A ; SNHG14
1 1.000 0.080 15 25356860 stop gained C/T snv 0.700 1.000 1 2014 2014
dbSNP: rs587781213
rs587781213
UBE3A ; SNHG14
1 1.000 0.080 15 25355984 stop gained G/A snv 0.700 1.000 1 2014 2014
dbSNP: rs587781216
rs587781216
UBE3A ; SNHG14
1 1.000 0.080 15 25354573 stop gained -/CTTTA delins 0.700 1.000 1 2014 2014
dbSNP: rs587781217
rs587781217
UBE3A ; SNHG14
1 1.000 0.080 15 25354571 stop gained A/T snv 0.700 1.000 1 2014 2014
dbSNP: rs587781219
rs587781219
UBE3A ; SNHG14
1 1.000 0.080 15 25354414 stop gained G/A snv 0.700 1.000 1 2014 2014
dbSNP: rs587781220
rs587781220
UBE3A ; SNHG14
1 1.000 0.080 15 25354402 stop gained C/A snv 0.700 1.000 1 2014 2014
dbSNP: rs587781226
rs587781226
UBE3A ; SNHG14
1 1.000 0.080 15 25339222 stop gained A/T snv 0.700 1.000 1 2014 2014
dbSNP: rs1060503386
rs1060503386
SYNGAP1
2 0.925 0.200 6 33440913 stop gained C/T snv 0.700 0
dbSNP: rs111033594
rs111033594
UBE3A ; SNHG14
1 1.000 0.080 15 25370865 stop gained G/A;C snv 4.0E-06 0.700 0
dbSNP: rs111033595
rs111033595
UBE3A ; SNHG14
1 1.000 0.080 15 25340219 stop gained C/T snv 0.700 0
dbSNP: rs1131691668
rs1131691668
ASXL3
3 0.925 0.080 18 33742954 stop gained C/T snv 0.700 0
dbSNP: rs587784508
rs587784508
UBE3A ; SNHG14
1 1.000 0.080 15 25371024 stop gained C/A;T snv 0.700 0