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: rs1057519062
rs1057519062
UBE3A ; SNHG14
1 1.000 0.080 15 25339187 frameshift variant TAAGTTTTTCTTTGCTT/- delins 0.700 0
dbSNP: rs1060503386
rs1060503386
SYNGAP1
2 0.925 0.200 6 33440913 stop gained C/T snv 0.700 0
dbSNP: rs1064792950
rs1064792950
UBE3A ; SNHG14
1 1.000 0.080 15 25339205 frameshift variant TTGAGTATTCCGGAAGT/- del 0.700 0
dbSNP: rs1064793307
rs1064793307
UBE3A ; SNHG14
1 1.000 0.080 15 25370598 missense variant G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs1064795012
rs1064795012
UBE3A ; SNHG14
1 1.000 0.080 15 25370597 missense variant 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: rs111033596
rs111033596
UBE3A ; SNHG14
1 1.000 0.080 15 25371798 missense variant T/G snv 0.700 0
dbSNP: rs111033597
rs111033597
UBE3A ; SNHG14
1 1.000 0.080 15 25371725 missense variant A/G snv 0.700 0
dbSNP: rs1131691668
rs1131691668
ASXL3
3 0.925 0.080 18 33742954 stop gained C/T snv 0.700 0
dbSNP: rs1555379684
rs1555379684
UBE3A ; SNHG14
1 1.000 0.080 15 25339142 frameshift variant GCATGCCAAATCCTTTGGCATACGTGATGGCCTTCAACAATCTCTCTTTAAGTTTTTCTTTGCTTGAG/- del 0.700 1.000 1 2014 2014
dbSNP: rs1555379745
rs1555379745
UBE3A ; SNHG14
1 1.000 0.080 15 25339174 stop gained -/TCAACAATCTCTCTTTAAGTTTTTCTTTGCTTGAGTATTCCGGAAGTAAAAGCACATTA 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: rs1555393242
rs1555393242
UBE3A ; SNHG14
1 1.000 0.080 15 25360440 missense variant C/T snv 0.700 0
dbSNP: rs1557135251
rs1557135251
MECP2
1 1.000 0.080 X 154030618 splice acceptor variant GGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGG/- delins 0.700 0
dbSNP: rs1566954070
rs1566954070
UBE3A ; SNHG14
1 1.000 0.080 15 25370574 frameshift variant G/- del 0.700 0
dbSNP: rs1566959617
rs1566959617
UBE3A ; SNHG14
1 1.000 0.080 15 25371320 missense variant A/G snv 0.700 0
dbSNP: rs267608426
rs267608426
MECP2
3 0.882 0.080 X 154032473 frameshift variant TCTT/- delins 0.700 0
dbSNP: rs267608434
rs267608434
MECP2
2 0.925 0.080 X 154032416 frameshift variant GG/- delins 0.700 0
dbSNP: rs28934904
rs28934904
MECP2
9 0.776 0.200 X 154031431 missense variant G/A;C;T snv 0.700 0
dbSNP: rs28934906
rs28934906
MECP2
46 0.716 0.320 X 154031355 missense variant G/A snv 0.700 0
dbSNP: rs28935468
rs28935468
MECP2
17 0.732 0.240 X 154030912 missense variant G/A snv 0.700 0
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: rs587780565
rs587780565
UBE3A ; SNHG14
1 1.000 0.080 15 25375667 frameshift variant G/- 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