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: rs28934908
rs28934908
MECP2
23 0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 0.800 1.000 10 2000 2007
dbSNP: rs61748392
rs61748392
MECP2
3 0.925 0.200 X 154031418 missense variant T/C snv 0.800 1.000 10 2000 2007
dbSNP: rs61749715
rs61749715
MECP2
8 0.851 0.120 X 154031154 missense variant G/A;C snv 0.800 1.000 10 2000 2007
dbSNP: rs61751449
rs61751449
MECP2
2 0.925 0.080 X 154030864 missense variant G/A;C snv 0.800 1.000 10 2000 2007
dbSNP: rs61748420
rs61748420
MECP2
5 0.851 0.200 X 154031329 missense variant G/A;T snv 0.700 1.000 10 2000 2007
dbSNP: rs61750255
rs61750255
MECP2
1 1.000 0.080 X 154030978 missense variant T/C snv 0.700 1.000 10 2000 2007
dbSNP: rs61753980
rs61753980
MECP2
1 1.000 0.080 X 154030470 missense variant C/A;T snv 1.1E-05 0.700 1.000 10 2000 2007
dbSNP: rs61750241
rs61750241
MECP2
7 0.807 0.080 X 154031022 frameshift variant C/- delins 0.700 1.000 3 1999 2012
dbSNP: rs61751444
rs61751444
MECP2
5 0.882 0.080 X 154030903 missense variant G/A snv 0.700 1.000 3 2007 2013
dbSNP: rs1057519404
rs1057519404
MECP2
2 1.000 0.080 X 154030716 frameshift variant -/G delins 0.700 0
dbSNP: rs1557135315
rs1557135315
MECP2
4 0.851 0.080 X 154030627 splice acceptor variant GGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTG/- 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: rs267608327
rs267608327
MECP2
25 0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins 0.700 0
dbSNP: rs267608426
rs267608426
MECP2
3 0.882 0.080 X 154032473 frameshift variant TCTT/- delins 0.700 0
dbSNP: rs267608571
rs267608571
MECP2
2 1.000 0.080 X 154030686 frameshift variant ACGGGGGC/- delins 0.700 0
dbSNP: rs267608590
rs267608590
MECP2
2 0.925 0.080 X 154030668 frameshift variant GG/A delins 0.700 0
dbSNP: rs267608597
rs267608597
MECP2
4 0.882 0.080 X 154030665 stop gained GG/TA mnv 0.700 0
dbSNP: rs267608634
rs267608634
MECP2
1 1.000 0.080 X 154030412 frameshift variant CT/- 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: rs61749721
rs61749721
MECP2
17 0.732 0.200 X 154031065 stop gained G/A snv 0.700 0
dbSNP: rs61750240
rs61750240
MECP2
19 0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06 0.700 0
dbSNP: rs61751362
rs61751362
MECP2
14 0.790 0.160 X 154030948 stop gained G/A;C snv 1.6E-05 0.700 0
dbSNP: rs61752992
rs61752992
MECP2
9 0.807 0.120 X 154030621 splice acceptor variant TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGC/- delins 0.700 0
dbSNP: rs61753965
rs61753965
MECP2
2 0.925 0.080 X 154030612 stop gained G/A snv 1.7E-05 0.700 0