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: 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: rs28934904
rs28934904
MECP2
9 0.776 0.200 X 154031431 missense variant G/A;C;T snv 0.700 0
dbSNP: rs61750241
rs61750241
MECP2
7 0.807 0.080 X 154031022 frameshift variant C/- delins 0.700 0
dbSNP: rs796052676
rs796052676
KCNQ3
10 0.807 0.200 8 132180246 missense variant G/A snv 0.700 0
dbSNP: rs267608426
rs267608426
MECP2
3 0.882 0.080 X 154032473 frameshift variant TCTT/- delins 0.700 0
dbSNP: rs61748396
rs61748396
MECP2
4 0.882 0.080 X 154031405 stop gained G/C;T snv 0.700 0
dbSNP: rs63749748
rs63749748
MECP2
3 0.882 0.080 X 154030628 splice acceptor variant TGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGG/- delins 0.700 0
dbSNP: rs1060503386
rs1060503386
SYNGAP1
2 0.925 0.200 6 33440913 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: rs267608434
rs267608434
MECP2
2 0.925 0.080 X 154032416 frameshift variant GG/- delins 0.700 0
dbSNP: rs864309508
rs864309508
UBE3A ; SNHG14
4 0.925 0.080 15 25356778 frameshift variant CA/- delins 0.700 0
dbSNP: rs876657400
rs876657400
SLC6A1
2 0.925 0.080 3 11025812 missense variant G/A 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: rs587780581
rs587780581
UBE3A ; SNHG14
1 1.000 0.080 15 25371479 missense variant T/A snv 0.800 1.000 5 1998 2016
dbSNP: rs587780582
rs587780582
UBE3A ; SNHG14
1 1.000 0.080 15 25371404 missense variant A/G;T snv 0.800 1.000 5 1998 2016
dbSNP: rs587780583
rs587780583
UBE3A ; SNHG14
1 1.000 0.080 15 25371326 missense variant A/C snv 0.800 1.000 5 1998 2016
dbSNP: rs587780584
rs587780584
UBE3A ; SNHG14
1 1.000 0.080 15 25370741 missense variant G/A snv 0.800 1.000 5 1998 2016
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: rs587781235
rs587781235
UBE3A ; SNHG14
1 1.000 0.080 15 25356840 missense variant C/G snv 0.800 1.000 5 1998 2016
dbSNP: rs587781236
rs587781236
UBE3A ; SNHG14
1 1.000 0.080 15 25355989 missense variant G/A;C snv 8.0E-06 0.800 1.000 5 1998 2016
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: rs587781241
rs587781241
UBE3A ; SNHG14
1 1.000 0.080 15 25371797 missense variant G/T snv 0.800 1.000 5 1998 2016
dbSNP: rs587781242
rs587781242
UBE3A ; SNHG14
1 1.000 0.080 15 25370810 missense variant A/G snv 0.800 1.000 5 1998 2016
dbSNP: rs587781243
rs587781243
UBE3A ; SNHG14
1 1.000 0.080 15 25370684 missense variant C/G snv 0.800 1.000 5 1998 2016