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: rs1557136758
rs1557136758
MECP2
1 X 154031215 frameshift variant -/T delins 0.700 1.000 19 1993 2016
dbSNP: rs1557137745
rs1557137745
MECP2
2 X 154032272 missense variant C/A snv 0.700 1.000 19 1993 2016
dbSNP: rs28934906
rs28934906
MECP2
46 0.716 0.320 X 154031355 missense variant G/A snv 0.700 1.000 19 1993 2016
dbSNP: rs61748396
rs61748396
MECP2
4 0.882 0.080 X 154031405 stop gained G/C;T snv 0.700 1.000 19 1993 2016
dbSNP: rs61749724
rs61749724
MECP2
2 1.000 0.080 X 154031217 stop gained G/A;C snv 5.4E-06 0.700 1.000 19 1993 2016
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: rs1569548274
rs1569548274
MECP2
43 0.701 0.520 X 154030553 splice acceptor variant TCCAGTGAGCCTCCTCTGGGCATCTTCTCCTCTTTGCAGACGCTGCTGCTCAAGTCCTGGGGCTCAGGGGGGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTGCTCCTTCTTGGGGGGTGAGGAGGCGCTGCTGCTGCGCCCCTTGGGGCTGCTCTCCTTGCTTTTCCGCCCAGGGCTCTTACAGGTCTTCAGTCCTTTCCCGCTCTTCTCACCGAGGGTGGACACCAGCAGGGGCTTCACCACTTCCTTGACCTCGATGCTGACCGTCTCCCGGGTCTTGCGCTTCTTGATGGGGAGTACGGTCTCCTGCACAGATCGGATAGAAGACTCCTTCACGGCTTTCTTTTTGGCCTCGGCGGCAGCGGCTGCCACCACACTCCCCGGCTTTCGGCCCCGTTTCTTGGGAATGGCCTGAGGGTCGGCCTCAGCTTTTCGCTTCCTGCCGGGGCGTTTGATCACCATGACCTGGGTGGATGTGGTGGCCCCACCCCCCTCAGC/- delins 0.700 0
dbSNP: rs61749721
rs61749721
MECP2
17 0.732 0.200 X 154031065 stop gained G/A snv 0.700 0