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: rs61750240
rs61750240
MECP2
19 0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06 0.700 1.000 19 1993 2016
dbSNP: rs61750241
rs61750241
MECP2
7 0.807 0.080 X 154031022 frameshift variant C/- delins 0.700 1.000 19 1993 2016
dbSNP: rs61751443
rs61751443
MECP2
3 0.925 0.080 X 154030911 missense variant C/A;G;T snv 0.700 1.000 19 1993 2016
dbSNP: rs61751444
rs61751444
MECP2
5 0.882 0.080 X 154030903 missense variant G/A snv 0.700 1.000 19 1993 2016