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: 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: rs28934905
rs28934905
MECP2
1.000 0.080 X 154031364 missense variant A/C;G snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.810 1.000 1 1999 2017
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: rs61748383
rs61748383
MECP2
1.000 0.080 X 154031445 missense variant T/G snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.710 1.000 1 1999 2017
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: 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: 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: rs786205045
rs786205045
MECP2
1.000 0.080 X 154097618 synonymous variant G/A snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.710 1.000 1 2013 2013