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: 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
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: rs1411125204
rs1411125204
RIMS2
1.000 0.080 8 103885593 missense variant C/T snv 1.4E-05
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.010 1.000 1 2013 2013
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: 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: rs267608595
rs267608595
MECP2
1.000 0.080 X 154030662 frameshift variant GTGGGGG/-;G delins 6.4E-05
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.010 1.000 1 2016 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: rs61748381
rs61748381
MECP2
1.000 0.080 X 154031226 missense variant G/A snv 1.4E-03 1.5E-03
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.010 1.000 1 2006 2006
dbSNP: rs61748395
rs61748395
MECP2
1.000 0.080 X 154031406 missense variant T/C snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.010 1.000 1 2006 2006
dbSNP: rs61749720
rs61749720
MECP2
1.000 0.080 X 154031220 missense variant G/A;T snv 7.5E-04
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.010 1.000 1 2010 2010
dbSNP: rs61749735
rs61749735
MECP2
0.925 0.200 X 154031162 synonymous variant G/A;C snv 5.4E-06; 3.8E-05
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.010 1.000 1 2006 2006
dbSNP: rs61749738
rs61749738
MECP2
1.000 0.080 X 154031145 missense variant G/C snv 7.4E-04 2.9E-03
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.010 1.000 1 2017 2017
dbSNP: rs63390262
rs63390262
MECP2
1.000 0.080 X 154030668 missense variant G/A snv 2.3E-05; 7.5E-05
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.010 1.000 1 2016 2016
dbSNP: rs750171549
rs750171549
RIMS2
1.000 0.080 8 103885392 missense variant G/A snv 8.1E-06 1.4E-05
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.010 1.000 1 2013 2013
dbSNP: rs762952014
rs762952014
SYN1
1.000 0.080 X 47576535 missense variant G/A snv 5.4E-06
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.010 1.000 1 2016 2016
dbSNP: rs766475539
rs766475539
CDKL5
1.000 0.080 X 18588118 missense variant G/C snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.010 1.000 1 2017 2017
dbSNP: rs768570497
rs768570497
MEF2C ; MEF2C-AS2
1.000 0.080 5 88722779 missense variant G/A snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.010 1.000 1 2017 2017
dbSNP: rs769085306
rs769085306
CHAT
1.000 0.080 10 49646558 missense variant T/C snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.010 1.000 1 2016 2016
dbSNP: rs782460882
rs782460882
MECP2
1.000 0.080 X 154030704 missense variant G/A snv 5.7E-06
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.010 1.000 1 2016 2016
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: 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