Source: CURATED ×
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: rs267608327
rs267608327
MECP2
25 0.763 0.200 X 154030631 splice acceptor variant CCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGT/- delins 0.700 1.000 11 2000 2011
dbSNP: rs28934904
rs28934904
MECP2
5 0.776 0.200 X 154031431 missense variant G/A;C;T snv 0.700 1.000 11 2000 2016
dbSNP: rs61748390
rs61748390
MECP2
2 0.925 0.080 X 154031427 missense variant G/A;C snv 0.700 1.000 11 2000 2015
dbSNP: rs28934906
rs28934906
MECP2
40 0.716 0.320 X 154031355 missense variant G/A snv 0.700 1.000 10 1999 2016
dbSNP: rs61751362
rs61751362
MECP2
8 0.790 0.160 X 154030948 stop gained G/A;C snv 1.6E-05 0.700 1.000 10 2000 2016
dbSNP: rs28935468
rs28935468
MECP2
14 0.732 0.240 X 154030912 missense variant G/A snv 0.700 1.000 9 2000 2016
dbSNP: rs267608469
rs267608469
MECP2
2 0.925 0.080 X 154031446 stop gained G/A;C snv 0.700 1.000 8 1999 2014
dbSNP: rs28934908
rs28934908
MECP2
12 0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06 0.700 1.000 8 2000 2016
dbSNP: rs61748404
rs61748404
MECP2
2 0.882 0.120 X 154031373 missense variant G/C;T snv 0.700 1.000 8 2000 2016
dbSNP: rs61750240
rs61750240
MECP2
17 0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06 0.700 1.000 8 2000 2013
dbSNP: rs267608387
rs267608387
MECP2
1 1.000 0.080 X 154031448 missense variant G/A snv 0.700 1.000 7 2001 2012
dbSNP: rs61748421
rs61748421
MECP2
6 0.807 0.200 X 154031326 stop gained G/A;T snv 0.700 1.000 7 1999 2014
dbSNP: rs61749721
rs61749721
MECP2
15 0.732 0.200 X 154031065 stop gained G/A snv 0.700 1.000 7 1975 2015
dbSNP: rs1569548307
rs1569548307
MECP2
1 1.000 0.080 X 154030638 splice acceptor variant TCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGG/CATCCCAGGACGCAGGTGGATCCGAGTCTGCTGCATAGACGGCCATTAGGTCCCAGGATGGAGCTGGATTCGAGCCTGCTGTGCTCCAAATGGTTACGGTGGTGAATTCTGTT delins 0.700 1.000 6 2000 2011
dbSNP: rs61748408
rs61748408
MECP2
2 0.925 0.080 X 154031360 missense variant G/A;C;T snv 0.700 1.000 6 2001 2015
dbSNP: rs61750256
rs61750256
MECP2
2 0.925 0.080 X 154030969 frameshift variant CTTT/- delins 0.700 1.000 6 2004 2012
dbSNP: rs63749748
rs63749748
MECP2
3 0.882 0.080 X 154030628 splice acceptor variant TGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGG/- delins 0.700 1.000 6 2000 2012
dbSNP: rs61748420
rs61748420
MECP2
3 0.851 0.200 X 154031329 missense variant G/A;T snv 0.700 1.000 5 2001 2016
dbSNP: rs61752992
rs61752992
MECP2
9 0.807 0.120 X 154030621 splice acceptor variant TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGC/- delins 0.700 1.000 5 2007 2012
dbSNP: rs61753972
rs61753972
MECP2
2 0.925 0.080 X 154030519 frameshift variant AG/- delins 0.700 1.000 5 2000 2013
dbSNP: rs1557135004
rs1557135004
MECP2
1 1.000 0.080 X 154030479 frameshift variant -/A delins 0.700 1.000 4 2000 2013
dbSNP: rs1557135793
rs1557135793
MECP2
2 0.925 0.080 X 154030691 frameshift variant G/-;GG delins 0.700 1.000 4 2004 2011
dbSNP: rs61749715
rs61749715
MECP2
8 0.851 0.120 X 154031154 missense variant G/A;C snv 0.700 1.000 3 2000 2001
dbSNP: rs61750241
rs61750241
MECP2
7 0.807 0.080 X 154031022 frameshift variant C/- delins 0.700 1.000 3 1999 2012
dbSNP: rs1569548376
rs1569548376
MECP2
1 1.000 0.080 X 154030827 frameshift variant TTCCC/- del 0.700 1.000 2 2006 2010