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: rs1569548307
rs1569548307
MECP2
1 1.000 0.080 X 154030638 splice acceptor variant TCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGG/CATCCCAGGACGCAGGTGGATCCGAGTCTGCTGCATAGACGGCCATTAGGTCCCAGGATGGAGCTGGATTCGAGCCTGCTGTGCTCCAAATGGTTACGGTGGTGAATTCTGTT delins 0.700 1.000 6 2000 2011
dbSNP: rs63749748
rs63749748
MECP2
3 0.882 0.080 X 154030628 splice acceptor variant TGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGG/- delins 0.700 1.000 6 2000 2012
dbSNP: rs61752992
rs61752992
MECP2
9 0.807 0.120 X 154030621 splice acceptor variant TGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGC/- delins 0.700 1.000 5 2007 2012
dbSNP: rs1557135315
rs1557135315
MECP2
4 0.851 0.080 X 154030627 splice acceptor variant GGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGGTGGGAGCAGTGGCACGGGGGCCTTTGGGGACTCTGAGTGGTGGTGATGGTGGTGGTG/- delins 0.700 0
dbSNP: rs1569548314
rs1569548314
MECP2
1 1.000 0.080 X 154030640 splice acceptor variant AGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGG/- delins 0.700 0
dbSNP: rs267608466
rs267608466
MECP2
1 1.000 0.080 X 154031445 splice acceptor variant TGTGGGGAC/- delins 0.700 0
dbSNP: rs61750256
rs61750256
MECP2
2 0.925 0.080 X 154030969 frameshift variant CTTT/- delins 0.700 1.000 6 2004 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: 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
dbSNP: rs1557135091
rs1557135091
MECP2
1 1.000 0.080 X 154030511 frameshift variant CG/- delins 0.700 1.000 1 2010 2010
dbSNP: rs1557136059
rs1557136059
MECP2
1 1.000 0.080 X 154030808 frameshift variant -/T delins 0.700 1.000 1 2010 2010
dbSNP: rs1557136332
rs1557136332
MECP2
2 0.925 0.080 X 154030988 frameshift variant G/- delins 0.700 0
dbSNP: rs1557150846
rs1557150846
MECP2
1 1.000 0.080 X 154097608 frameshift variant -/GCCTCCTCCTCCTCCTC delins 0.700 0
dbSNP: rs267608428
rs267608428
MECP2
2 0.925 0.080 X 154032464 frameshift variant CT/- delins 0.700 0
dbSNP: rs267608488
rs267608488
MECP2
2 0.925 0.080 X 154031339 frameshift variant CC/- delins 0.700 0
dbSNP: rs61749751
rs61749751
MECP2
2 0.925 0.080 X 154031075 frameshift variant G/-;GG;GGG delins 0.700 0
dbSNP: rs62931162
rs62931162
MECP2
2 0.925 0.080 X 154031020 frameshift variant G/- delins 0.700 0
dbSNP: rs786205048
rs786205048
MECP2
2 0.925 0.080 X 154097603 splice donor variant C/T snv 0.700 0
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