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: 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: 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: rs76794400
rs76794400
UBE3A ; SNHG14
1 1.000 0.080 15 25339138 stop lost T/A;C snv 3.0E-03 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: 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: rs1555393242
rs1555393242
UBE3A ; SNHG14
1 1.000 0.080 15 25360440 missense variant C/T snv 0.700 0
dbSNP: rs1566959617
rs1566959617
UBE3A ; SNHG14
1 1.000 0.080 15 25371320 missense variant A/G snv 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: rs587782919
rs587782919
UBE3A ; SNHG14
1 1.000 0.080 15 25356827 missense variant T/C;G snv 0.700 0
dbSNP: rs587783097
rs587783097
UBE3A ; SNHG14
1 1.000 0.080 15 25339193 missense variant G/A 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