Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs61750240
rs61750240
MECP2
0.752 0.240 X 154031020 stop gained G/A;C snv 5.5E-06
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.760 1.000 6 2000 2016
dbSNP: rs61748421
rs61748421
MECP2
0.807 0.200 X 154031326 stop gained G/A;T snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.740 1.000 4 1999 2014
dbSNP: rs61751362
rs61751362
MECP2
0.790 0.160 X 154030948 stop gained G/A;C snv 1.6E-05
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.730 1.000 3 1975 2013
dbSNP: rs61749721
rs61749721
MECP2
0.732 0.200 X 154031065 stop gained G/A snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.720 1.000 2 1999 2010
dbSNP: rs138747073
rs138747073
FOXG1
0.925 0.120 14 28768479 stop gained C/A;G;T snv 6.0E-05
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.010 1.000 1 2010 2010
dbSNP: rs267606827
rs267606827
FOXG1
0.925 0.120 14 28768203 stop gained G/A snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.010 1.000 1 2010 2010
dbSNP: rs267608475
rs267608475
MECP2
0.925 0.120 X 154031415 stop gained A/G;T snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.710 1.000 1 1999 1999
dbSNP: rs267608597
rs267608597
MECP2
0.882 0.080 X 154030665 stop gained GG/TA mnv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.010 1.000 1 2007 2007
dbSNP: rs61751367
rs61751367
MECP2
0.925 0.080 X 154030939 stop gained G/A snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.710 1.000 1 2016 2016
dbSNP: rs28934906
rs28934906
MECP2
0.716 0.320 X 154031355 missense variant G/A snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.900 1.000 11 1999 2017
dbSNP: rs28934904
rs28934904
MECP2
0.776 0.200 X 154031431 missense variant G/A;C;T snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.880 1.000 8 1999 2017
dbSNP: rs28935468
rs28935468
MECP2
0.732 0.240 X 154030912 missense variant G/A snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.870 1.000 7 1999 2017
dbSNP: rs28934907
rs28934907
MECP2
0.732 0.320 X 154032268 missense variant G/A;C snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.840 1.000 4 1999 2017
dbSNP: rs1294028027
rs1294028027
ZNF436
1.000 0.080 1 23363066 missense variant A/G snv 4.0E-06
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.020 1.000 2 2008 2009
dbSNP: rs267608454
rs267608454
MECP2
1.000 0.080 X 154032226 missense variant A/C snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.720 1.000 2 1999 2018
dbSNP: rs529730514
rs529730514
UBE2V1 ; TMEM189-UBE2V1
1.000 0.080 20 50082839 missense variant G/A snv 4.0E-06
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.020 1.000 2 2008 2009
dbSNP: rs61748389
rs61748389
MECP2
1.000 0.080 X 154031430 missense variant C/A;T snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.720 1.000 2 1999 2019
dbSNP: rs61751444
rs61751444
MECP2
0.882 0.080 X 154030903 missense variant G/A snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.720 1.000 2 2007 2016
dbSNP: rs6265
rs6265
BDNF ; BDNF-AS
0.436 0.760 11 27658369 missense variant C/T snv 0.19 0.15
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.020 1.000 2 2008 2017
dbSNP: rs759834365
rs759834365
BDNF ; BDNF-AS
0.448 0.760 11 27658456 missense variant C/T snv 1.2E-05
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.020 1.000 2 2008 2017
dbSNP: rs763411661
rs763411661
ZNF253
1.000 0.080 19 19891794 missense variant C/T snv 4.4E-05 1.4E-05
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.020 1.000 2 2008 2009
dbSNP: rs118203984
rs118203984
ALDH5A1
0.925 0.160 6 24528049 missense variant G/A snv 2.8E-05 7.0E-06
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.010 1.000 1 2019 2019
dbSNP: rs1305079529
rs1305079529
RIMS2
1.000 0.080 8 104014516 missense variant C/T snv 8.1E-06
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.010 1.000 1 2013 2013
dbSNP: rs1339220115
rs1339220115
BDNF ; BDNF-AS
1.000 0.080 11 27658119 missense variant G/A snv 4.0E-06 7.0E-06
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.010 1.000 1 2009 2009
dbSNP: rs1349681470
rs1349681470
BDNF ; BDNF-AS
1.000 0.080 11 27658333 missense variant G/A snv 1.4E-05
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.010 1.000 1 2009 2009