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: rs1557135091
rs1557135091
MECP2
1 1.000 0.080 X 154030511 frameshift variant CG/- delins 0.700 1.000 1 2010 2010
dbSNP: rs1557136059
rs1557136059
MECP2
1 1.000 0.080 X 154030808 frameshift variant -/T delins 0.700 1.000 1 2010 2010
dbSNP: rs61751367
rs61751367
MECP2
3 0.925 0.080 X 154030939 stop gained G/A snv 0.700 1.000 1 2001 2001
dbSNP: rs1557134999
rs1557134999
MECP2
1 1.000 0.080 X 154030478 stop gained G/C snv 0.700 0
dbSNP: rs1557135315
rs1557135315
MECP2
4 0.851 0.080 X 154030627 splice acceptor variant GGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTG/- delins 0.700 0
dbSNP: rs1557136332
rs1557136332
MECP2
2 0.925 0.080 X 154030988 frameshift variant G/- delins 0.700 0
dbSNP: rs1557150846
rs1557150846
MECP2
1 1.000 0.080 X 154097608 frameshift variant -/GCCTCCTCCTCCTCCTC delins 0.700 0
dbSNP: rs1569548314
rs1569548314
MECP2
1 1.000 0.080 X 154030640 splice acceptor variant AGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGG/- delins 0.700 0
dbSNP: rs179363900
rs179363900
MECP2
6 0.807 0.080 X 154031374 missense variant G/C snv 5.5E-06 1.9E-05 0.700 0
dbSNP: rs267608428
rs267608428
MECP2
2 0.925 0.080 X 154032464 frameshift variant CT/- delins 0.700 0
dbSNP: rs267608466
rs267608466
MECP2
1 1.000 0.080 X 154031445 splice acceptor variant TGTGGGGAC/- delins 0.700 0
dbSNP: rs267608488
rs267608488
MECP2
2 0.925 0.080 X 154031339 frameshift variant CC/- delins 0.700 0
dbSNP: rs28934907
rs28934907
MECP2
30 0.732 0.320 X 154032268 missense variant G/A;C snv 0.700 0
dbSNP: rs61749723
rs61749723
MECP2
2 0.925 0.080 X 154030923 missense variant G/A;C;T snv 0.700 0
dbSNP: rs61749751
rs61749751
MECP2
2 0.925 0.080 X 154031075 frameshift variant G/-;GG;GGG delins 0.700 0
dbSNP: rs61753971
rs61753971
MECP2
2 0.925 0.120 X 154030546 missense variant C/T snv 1.3E-04 1.1E-04 0.700 0
dbSNP: rs62931162
rs62931162
MECP2
2 0.925 0.080 X 154031020 frameshift variant G/- delins 0.700 0
dbSNP: rs786205048
rs786205048
MECP2
2 0.925 0.080 X 154097603 splice donor variant C/T snv 0.700 0