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: rs587781229
rs587781229
UBE3A ; SNHG14
1 1.000 0.080 15 25339195 frameshift variant -/CTTT delins 0.700 1.000 1 2014 2014
dbSNP: rs1064792950
rs1064792950
UBE3A ; SNHG14
1 1.000 0.080 15 25339205 frameshift variant TTGAGTATTCCGGAAGT/- del 0.700 0
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: rs587784526
rs587784526
UBE3A ; SNHG14
1 1.000 0.080 15 25339211 missense variant A/G snv 0.700 0
dbSNP: rs587781239
rs587781239
UBE3A ; SNHG14
1 1.000 0.080 15 25339216 missense variant G/A snv 0.800 1.000 6 1998 2017
dbSNP: rs587781227
rs587781227
UBE3A ; SNHG14
1 1.000 0.080 15 25339218 frameshift variant A/- delins 0.700 1.000 1 2014 2014
dbSNP: rs863224940
rs863224940
UBE3A ; SNHG14
1 1.000 0.080 15 25339218 frameshift variant GTAA/- delins 0.700 0
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: rs587781238
rs587781238
UBE3A ; SNHG14
1 1.000 0.080 15 25340115 start lost ATC/- delins 0.700 1.000 1 2014 2014
dbSNP: rs587781225
rs587781225
UBE3A ; SNHG14
1 1.000 0.080 15 25340150 frameshift variant CTGT/- delins 0.700 1.000 1 2014 2014
dbSNP: rs587781224
rs587781224
UBE3A ; SNHG14
1 1.000 0.080 15 25340178 frameshift variant AA/- del 0.700 1.000 1 2014 2014
dbSNP: rs797046086
rs797046086
UBE3A ; SNHG14
1 1.000 0.080 15 25340182 frameshift variant -/CTTT delins 0.700 0
dbSNP: rs111033595
rs111033595
UBE3A ; SNHG14
1 1.000 0.080 15 25340219 stop gained C/T snv 0.700 0
dbSNP: rs587781223
rs587781223
UBE3A ; SNHG14
1 1.000 0.080 15 25354357 frameshift variant -/C delins 0.700 1.000 1 2014 2014
dbSNP: rs587781222
rs587781222
UBE3A ; SNHG14
1 1.000 0.080 15 25354395 frameshift variant -/AGTTT delins 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: rs587781221
rs587781221
UBE3A ; SNHG14
1 1.000 0.080 15 25354402 frameshift variant C/- del 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: rs587781218
rs587781218
UBE3A ; SNHG14
1 1.000 0.080 15 25354562 frameshift variant G/- delins 0.700 1.000 1 2014 2014
dbSNP: rs797046085
rs797046085
UBE3A ; SNHG14
1 1.000 0.080 15 25354569 frameshift variant -/T delins 0.700 0
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: rs587781216
rs587781216
UBE3A ; SNHG14
1 1.000 0.080 15 25354573 stop gained -/CTTTA delins 0.700 1.000 1 2014 2014
dbSNP: rs587781215
rs587781215
UBE3A ; SNHG14
1 1.000 0.080 15 25354645 frameshift variant -/AATA ins 4.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs587781237
rs587781237
UBE3A ; SNHG14
1 1.000 0.080 15 25354679 missense variant A/C snv 0.800 1.000 5 1998 2016
dbSNP: rs587780580
rs587780580
UBE3A ; SNHG14
1 1.000 0.080 15 25354685 splice acceptor variant T/G snv 0.700 1.000 1 2014 2014