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: rs587780572
rs587780572
UBE3A ; SNHG14
1 1.000 0.080 15 25371710 frameshift variant -/A delins 0.700 1.000 1 2014 2014
dbSNP: rs587781199
rs587781199
UBE3A ; SNHG14
1 1.000 0.080 15 25370758 frameshift variant -/A delins 4.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs587781206
rs587781206
UBE3A ; SNHG14
1 1.000 0.080 15 25360467 frameshift variant -/A delins 0.700 1.000 1 2014 2014
dbSNP: rs797046088
rs797046088
UBE3A ; SNHG14
1 1.000 0.080 15 25339148 frameshift variant -/A delins 0.700 0
dbSNP: rs587781207
rs587781207
UBE3A ; SNHG14
1 1.000 0.080 15 25360433 frameshift variant -/AACA delins 0.700 1.000 1 2014 2014
dbSNP: rs1555379800
rs1555379800
UBE3A ; SNHG14
1 1.000 0.080 15 25339188 frameshift variant -/AAGTT delins 0.700 0
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: rs587781222
rs587781222
UBE3A ; SNHG14
1 1.000 0.080 15 25354395 frameshift variant -/AGTTT delins 0.700 1.000 1 2014 2014
dbSNP: rs587781204
rs587781204
UBE3A ; SNHG14
1 1.000 0.080 15 25370576 frameshift variant -/C delins 0.700 1.000 1 2014 2014
dbSNP: rs587781223
rs587781223
UBE3A ; SNHG14
1 1.000 0.080 15 25354357 frameshift variant -/C delins 0.700 1.000 1 2014 2014
dbSNP: rs587781229
rs587781229
UBE3A ; SNHG14
1 1.000 0.080 15 25339195 frameshift variant -/CTTT delins 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: rs587781216
rs587781216
UBE3A ; SNHG14
1 1.000 0.080 15 25354573 stop gained -/CTTTA delins 0.700 1.000 1 2014 2014
dbSNP: rs587780568
rs587780568
UBE3A ; SNHG14
1 1.000 0.080 15 25375490 frameshift variant -/T delins 4.0E-06 0.700 1.000 1 2014 2014
dbSNP: rs587780574
rs587780574
UBE3A ; SNHG14
1 1.000 0.080 15 25371533 frameshift variant -/T delins 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: rs587781194
rs587781194
UBE3A ; SNHG14
1 1.000 0.080 15 25371037 frameshift variant -/T delins 0.700 1.000 1 2014 2014
dbSNP: rs587781205
rs587781205
UBE3A ; SNHG14
1 1.000 0.080 15 25360504 frameshift variant -/T delins 0.700 1.000 1 2014 2014
dbSNP: rs587781212
rs587781212
UBE3A ; SNHG14
1 1.000 0.080 15 25355998 frameshift variant -/T 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: rs797046087
rs797046087
UBE3A ; SNHG14
1 1.000 0.080 15 25339193 frameshift variant -/T delins 0.700 0
dbSNP: rs587781240
rs587781240
UBE3A ; SNHG14
1 1.000 0.080 15 25339188 protein altering variant -/TAAGTTTTTCTTTGCTTGAGT delins 0.700 1.000 1 2014 2014
dbSNP: rs587781230
rs587781230
UBE3A ; SNHG14
1 1.000 0.080 15 25339189 frameshift variant -/TAAGTTTTTCTTTGCTTGAGTATTCCGGAAGTAAAAGCACATTA delins 4.0E-06 0.700 0
dbSNP: rs1555379745
rs1555379745
UBE3A ; SNHG14
1 1.000 0.080 15 25339174 stop gained -/TCAACAATCTCTCTTTAAGTTTTTCTTTGCTTGAGTATTCCGGAAGTAAAAGCACATTA delins 0.700 1.000 1 2014 2014
dbSNP: rs587780566
rs587780566
UBE3A ; SNHG14
1 1.000 0.080 15 25375563 frameshift variant -/TCTT delins 0.700 1.000 1 2014 2014