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: 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: 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: 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: 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: rs28934908
rs28934908
MECP2
0.732 0.280 X 154031409 missense variant G/A;T snv 5.5E-06
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.710 1.000 1 2002 2016
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: 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: 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: 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: rs179363900
rs179363900
MECP2
0.807 0.080 X 154031374 missense variant G/C snv 5.5E-06 1.9E-05
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.710 1.000 1 2009 2009
dbSNP: rs61751364
rs61751364
MECP2
0.882 0.120 X 154030944 frameshift variant CGGAT/- delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.770 1.000 7 2005 2016
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: 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: rs61748404
rs61748404
MECP2
0.882 0.120 X 154031373 missense variant G/C;T snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.810 1.000 1 1999 2017
dbSNP: rs79667838
rs79667838
GRPR
0.882 0.120 X 16150432 missense variant C/T snv 3.0E-04 4.8E-04
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.010 1.000 1 2008 2008
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: 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: rs1397094538
rs1397094538
ZNF436 ; ZNF436-AS1
0.925 0.120 1 23367044 missense variant A/T snv 4.0E-06
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.010 1.000 1 2011 2011
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: rs267608563
rs267608563
MECP2
0.925 0.080 X 154030763 missense variant G/A;T snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.010 1.000 1 2012 2012
dbSNP: rs61748390
rs61748390
MECP2
0.925 0.080 X 154031427 missense variant G/A;C snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.810 1.000 1 1988 2017
dbSNP: rs61748411
rs61748411
MECP2
0.925 0.120 X 154031356 missense variant T/C snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.710 1.000 1 1999 2017