Gene: MECP2 ×
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: rs28934904
rs28934904
MECP2
9 0.776 0.200 X 154031431 missense variant G/A;C;T snv 0.030 1.000 3 2006 2015
dbSNP: rs28934906
rs28934906
MECP2
46 0.716 0.320 X 154031355 missense variant G/A snv 0.020 1.000 2 2010 2015
dbSNP: rs61749721
rs61749721
MECP2
17 0.732 0.200 X 154031065 stop gained G/A snv 0.020 1.000 2 2010 2015
dbSNP: rs28934907
rs28934907
MECP2
30 0.732 0.320 X 154032268 missense variant G/A;C snv 0.010 1.000 1 2010 2010
dbSNP: rs28935468
rs28935468
MECP2
17 0.732 0.240 X 154030912 missense variant G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs61749712
rs61749712
MECP2
1 1.000 0.040 X 154031243 missense variant G/A;T snv 1.7E-04 0.010 1.000 1 2015 2015
dbSNP: rs61750240
rs61750240
MECP2
19 0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06 0.010 1.000 1 2011 2011
dbSNP: rs61751364
rs61751364
MECP2
4 0.882 0.120 X 154030944 frameshift variant CGGAT/- delins 0.010 1.000 1 2010 2010
dbSNP: rs868973240
rs868973240
MECP2
1 1.000 0.040 X 154032314 synonymous variant G/A snv 0.010 1.000 1 2015 2015