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: rs61750241
rs61750241
MECP2
0.807 0.080 X 154031022 frameshift variant C/- delins
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features 		0.700 1.000 19 1993 2016
dbSNP: rs61750241
rs61750241
MECP2
0.807 0.080 X 154031022 frameshift variant C/- delins
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 1.000 19 1993 2016
dbSNP: rs61750241
rs61750241
MECP2
0.807 0.080 X 154031022 frameshift variant C/- delins
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.700 1.000 11 1999 2012
dbSNP: rs61750241
rs61750241
MECP2
0.807 0.080 X 154031022 frameshift variant C/- delins
CUI: C1968550
Disease: Mental Retardation, X-Linked, Syndromic 13
Mental Retardation, X-Linked, Syndromic 13 		0.700 1.000 3 1999 2012
dbSNP: rs61750241
rs61750241
MECP2
0.807 0.080 X 154031022 frameshift variant C/- delins
CUI: C1846058
Disease: Lubs X-linked mental retardation syndrome
Lubs X-linked mental retardation syndrome 		0.700 1.000 3 1999 2012
dbSNP: rs61750241
rs61750241
MECP2
0.807 0.080 X 154031022 frameshift variant C/- delins
CUI: C1968556
Disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS 		0.700 1.000 3 1999 2012
dbSNP: rs61750241
rs61750241
MECP2
0.807 0.080 X 154031022 frameshift variant C/- delins
CUI: C0162635
Disease: Angelman Syndrome
Angelman Syndrome 		0.700 0