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 0.900 1.000 58 1999 2017
dbSNP: rs28934904
rs28934904
MECP2
9 0.776 0.200 X 154031431 missense variant G/A;C;T snv 0.880 1.000 42 1999 2017
dbSNP: rs28935468
rs28935468
MECP2
17 0.732 0.240 X 154030912 missense variant G/A snv 0.870 1.000 47 1999 2017
dbSNP: rs28934907
rs28934907
MECP2
30 0.732 0.320 X 154032268 missense variant G/A;C snv 0.840 1.000 30 1999 2017
dbSNP: rs61748390
rs61748390
MECP2
2 0.925 0.080 X 154031427 missense variant G/A;C snv 0.810 1.000 27 1988 2017
dbSNP: rs61748404
rs61748404
MECP2
3 0.882 0.120 X 154031373 missense variant G/C;T snv 0.810 1.000 26 1999 2017
dbSNP: rs28934905
rs28934905
MECP2
1 1.000 0.080 X 154031364 missense variant A/C;G snv 0.810 1.000 22 1999 2017
dbSNP: rs61749723
rs61749723
MECP2
2 0.925 0.080 X 154030923 missense variant G/A;C;T snv 0.800 1.000 25 1999 2017
dbSNP: rs61751443
rs61751443
MECP2
3 0.925 0.080 X 154030911 missense variant C/A;G;T snv 0.800 1.000 25 1999 2017
dbSNP: rs61749715
rs61749715
MECP2
8 0.851 0.120 X 154031154 missense variant G/A;C snv 0.800 1.000 21 1999 2017
dbSNP: rs61751449
rs61751449
MECP2
2 0.925 0.080 X 154030864 missense variant G/A;C snv 0.800 1.000 21 1999 2017
dbSNP: rs28935168
rs28935168
MECP2
1 1.000 0.080 X 154032286 missense variant G/C snv 0.800 1.000 20 1999 2017
dbSNP: rs61754421
rs61754421
MECP2
1 1.000 0.080 X 154032556 stop gained C/A;G snv 0.800 1.000 1 2013 2013
dbSNP: rs61754452
rs61754452
MECP2
1 1.000 0.080 X 154032283 missense variant G/A snv 0.800 1.000 1 2013 2013
dbSNP: rs61754453
rs61754453
MECP2
1 1.000 0.080 X 154032282 missense variant G/A;C;T snv 0.800 1.000 1 2013 2013
dbSNP: rs61754457
rs61754457
MECP2
1 1.000 0.080 X 154032267 missense variant C/A;T snv 0.800 1.000 1 2013 2013
dbSNP: rs61751364
rs61751364
MECP2
4 0.882 0.120 X 154030944 frameshift variant CGGAT/- delins 0.770 1.000 7 2005 2016
dbSNP: rs61750240
rs61750240
MECP2
19 0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06 0.760 1.000 24 2000 2016
dbSNP: rs61748421
rs61748421
MECP2
9 0.807 0.200 X 154031326 stop gained G/A;T snv 0.740 1.000 42 1999 2014
dbSNP: rs61751362
rs61751362
MECP2
14 0.790 0.160 X 154030948 stop gained G/A;C snv 1.6E-05 0.730 1.000 20 1975 2013
dbSNP: rs267608454
rs267608454
MECP2
1 1.000 0.080 X 154032226 missense variant A/C snv 0.720 1.000 23 1999 2018
dbSNP: rs61748389
rs61748389
MECP2
2 1.000 0.080 X 154031430 missense variant C/A;T snv 0.720 1.000 23 1999 2019
dbSNP: rs61749721
rs61749721
MECP2
17 0.732 0.200 X 154031065 stop gained G/A snv 0.720 1.000 10 1999 2010
dbSNP: rs61751444
rs61751444
MECP2
5 0.882 0.080 X 154030903 missense variant G/A snv 0.720 1.000 3 2007 2016
dbSNP: rs61748383
rs61748383
MECP2
1 1.000 0.080 X 154031445 missense variant T/G snv 0.710 1.000 22 1999 2017