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: rs61748421
rs61748421
MECP2
9 0.807 0.200 X 154031326 stop gained G/A;T snv 0.740 1.000 42 1999 2014
dbSNP: rs61750240
rs61750240
MECP2
19 0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06 0.760 1.000 24 2000 2016
dbSNP: rs61751362
rs61751362
MECP2
14 0.790 0.160 X 154030948 stop gained G/A;C snv 1.6E-05 0.730 1.000 20 1975 2013
dbSNP: rs61749721
rs61749721
MECP2
17 0.732 0.200 X 154031065 stop gained G/A snv 0.720 1.000 10 1999 2010
dbSNP: rs61748396
rs61748396
MECP2
4 0.882 0.080 X 154031405 stop gained G/C;T snv 0.700 1.000 5 2001 2007
dbSNP: rs267608438
rs267608438
MECP2
1 1.000 0.080 X 154032381 stop gained G/A;C snv 5.5E-06 0.700 1.000 2 2005 2013
dbSNP: rs138747073
rs138747073
FOXG1
2 0.925 0.120 14 28768479 stop gained C/A;G;T snv 6.0E-05 0.010 1.000 1 2010 2010
dbSNP: rs267606827
rs267606827
FOXG1
3 0.925 0.120 14 28768203 stop gained G/A snv 0.010 1.000 1 2010 2010
dbSNP: rs267608475
rs267608475
MECP2
2 0.925 0.120 X 154031415 stop gained A/G;T snv 0.710 1.000 1 1999 1999
dbSNP: rs267608525
rs267608525
MECP2
1 1.000 0.080 X 154031044 stop gained G/A;C snv 1.1E-05 0.700 1.000 1 2001 2001
dbSNP: rs267608597
rs267608597
MECP2
4 0.882 0.080 X 154030665 stop gained GG/TA mnv 0.010 1.000 1 2007 2007
dbSNP: rs61751367
rs61751367
MECP2
3 0.925 0.080 X 154030939 stop gained G/A snv 0.710 1.000 1 2016 2016
dbSNP: rs61754421
rs61754421
MECP2
1 1.000 0.080 X 154032556 stop gained C/A;G snv 0.800 1.000 1 2013 2013
dbSNP: rs104894864
rs104894864
MECP2
1 1.000 0.080 X 154030465 stop gained C/A snv 0.700 0
dbSNP: rs1064797104
rs1064797104
MECP2
1 1.000 0.080 X 154031053 stop gained -/TCAGCTTTTCGCTTCCTGCCGGGGC delins 0.700 0
dbSNP: rs193922679
rs193922679
MECP2
1 1.000 0.080 X 154031254 stop gained T/A snv 0.700 0
dbSNP: rs267608445
rs267608445
MECP2
1 1.000 0.080 X 154032310 stop gained C/A snv 0.700 0
dbSNP: rs267608469
rs267608469
MECP2
2 0.925 0.080 X 154031446 stop gained G/A;C snv 0.700 0
dbSNP: rs267608495
rs267608495
MECP2
1 1.000 0.080 X 154031290 stop gained T/A snv 0.700 0
dbSNP: rs267608507
rs267608507
MECP2
1 1.000 0.080 X 154031216 stop gained TG/CT mnv 0.700 0
dbSNP: rs267608569
rs267608569
MECP2
1 1.000 0.080 X 154030710 stop gained G/C;T snv 1.7E-05 0.700 0
dbSNP: rs56268439
rs56268439
MECP2
2 1.000 0.080 X 154030639 stop gained C/A;T snv 5.8E-06; 5.8E-06; 2.2E-03 0.700 0
dbSNP: rs61748399
rs61748399
MECP2
1 1.000 0.080 X 154031398 stop gained T/A snv 0.700 0
dbSNP: rs61748425
rs61748425
MECP2
1 1.000 0.080 X 154031320 stop gained G/A;C snv 5.5E-06 0.700 0
dbSNP: rs61749717
rs61749717
MECP2
1 1.000 0.080 X 154031236 stop gained T/A;G snv 5.5E-06 0.700 0