Gene: MECP2 ×
Source: INFERRED ×
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: rs1557135251
rs1557135251
MECP2
1 1.000 0.080 X 154030618 splice acceptor variant GGCTGGTGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGGGG/- delins 0.700 0
dbSNP: rs267608426
rs267608426
MECP2
3 0.882 0.080 X 154032473 frameshift variant TCTT/- delins 0.700 0
dbSNP: rs267608434
rs267608434
MECP2
2 0.925 0.080 X 154032416 frameshift variant GG/- delins 0.700 0
dbSNP: rs28934904
rs28934904
MECP2
5 0.776 0.200 X 154031431 missense variant G/A;C;T snv 0.700 0
dbSNP: rs28934906
rs28934906
MECP2
40 0.716 0.320 X 154031355 missense variant G/A snv 0.700 0
dbSNP: rs28935468
rs28935468
MECP2
14 0.732 0.240 X 154030912 missense variant G/A snv 0.700 0
dbSNP: rs61748396
rs61748396
MECP2
4 0.882 0.080 X 154031405 stop gained G/C;T snv 0.700 0
dbSNP: rs61750241
rs61750241
MECP2
7 0.807 0.080 X 154031022 frameshift variant C/- delins 0.700 0
dbSNP: rs63749748
rs63749748
MECP2
3 0.882 0.080 X 154030628 splice acceptor variant TGGGGTCCTCGGAGCTCTCGGGCTCAGGTGGAGGTGGGGGCAGG/- delins 0.700 0