Source: UNIPROT

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: rs61749730
rs61749730
MECP2
1.000 0.080 X 154031199 missense variant T/A snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 1.000 21 1999 2017
dbSNP: rs61751373
rs61751373
MECP2
1.000 0.080 X 154030924 missense variant G/A;C;T snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 1.000 21 1999 2017
dbSNP: rs61751441
rs61751441
MECP2
1.000 0.080 X 154030914 missense variant T/C snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 1.000 21 1999 2017
dbSNP: rs61753000
rs61753000
MECP2
1.000 0.080 X 154030666 missense variant G/A;C snv 5.8E-06; 7.5E-05; 3.5E-05
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 1.000 21 1999 2017
dbSNP: rs61751450
rs61751450
MECP2
1.000 0.080 X 154030863 missense variant G/A snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 1.000 20 1999 2017
dbSNP: rs61754448
rs61754448
MECP2
1.000 0.080 X 154032295 missense variant C/A snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 1.000 1 2013 2013
dbSNP: rs61754449
rs61754449
MECP2
1.000 0.080 X 154032293 missense variant G/T snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 1.000 1 2013 2013
dbSNP: rs61754451
rs61754451
MECP2
1.000 0.080 X 154032285 missense variant A/C snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 1.000 1 2013 2013
dbSNP: rs61754459
rs61754459
MECP2
1.000 0.080 X 154032253 missense variant T/C snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 1.000 1 2013 2013
dbSNP: rs61755763
rs61755763
MECP2
1.000 0.080 X 154032212 missense variant C/A;G snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 1.000 1 2013 2013