Source: CLINVAR

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: 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 40 1999 2014
dbSNP: rs61748421
rs61748421
MECP2
0.807 0.200 X 154031326 stop gained G/A;T snv
CUI: C1968556
Disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS 		0.700 1.000 7 1999 2014
dbSNP: rs61748421
rs61748421
MECP2
0.807 0.200 X 154031326 stop gained G/A;T snv
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.700 0
dbSNP: rs61748421
rs61748421
MECP2
0.807 0.200 X 154031326 stop gained G/A;T snv
CUI: C1836830
Disease: Developmental regression
Developmental regression 		0.700 0
dbSNP: rs61748421
rs61748421
MECP2
0.807 0.200 X 154031326 stop gained G/A;T snv
CUI: C1858120
Disease: Generalized hypotonia
Generalized hypotonia 		0.700 0
dbSNP: rs61748421
rs61748421
MECP2
0.807 0.200 X 154031326 stop gained G/A;T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0