Source: CURATED

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: rs61749721
rs61749721
MECP2
0.732 0.200 X 154031065 stop gained G/A snv
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.720 1.000 8 1999 2010
dbSNP: rs61749721
rs61749721
MECP2
0.732 0.200 X 154031065 stop gained G/A snv
CUI: C1968556
Disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS 		0.700 1.000 7 1975 2015
dbSNP: rs61749721
rs61749721
MECP2
0.732 0.200 X 154031065 stop gained G/A snv
CUI: C1845336
Disease: AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3 (finding)
AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3 (finding) 		0.700 0
dbSNP: rs61749721
rs61749721
MECP2
0.732 0.200 X 154031065 stop gained G/A snv
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.700 0
dbSNP: rs61749721
rs61749721
MECP2
0.732 0.200 X 154031065 stop gained G/A snv
CUI: C4022855
Disease: Abnormal involuntary eye movements
Abnormal involuntary eye movements 		0.700 0
dbSNP: rs61749721
rs61749721
MECP2
0.732 0.200 X 154031065 stop gained G/A snv
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0
dbSNP: rs61749721
rs61749721
MECP2
0.732 0.200 X 154031065 stop gained G/A snv
CUI: C0239846
Disease: Hand-wringing
Hand-wringing 		0.700 0
dbSNP: rs61749721
rs61749721
MECP2
0.732 0.200 X 154031065 stop gained G/A snv
CUI: C3805839
Disease: Central hypoventilation
Central hypoventilation 		0.700 0
dbSNP: rs61749721
rs61749721
MECP2
0.732 0.200 X 154031065 stop gained G/A snv
CUI: C1968550
Disease: Mental Retardation, X-Linked, Syndromic 13
Mental Retardation, X-Linked, Syndromic 13 		0.700 0
dbSNP: rs61749721
rs61749721
MECP2
0.732 0.200 X 154031065 stop gained G/A snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.700 0
dbSNP: rs61749721
rs61749721
MECP2
0.732 0.200 X 154031065 stop gained G/A snv
CUI: C1846058
Disease: Lubs X-linked mental retardation syndrome
Lubs X-linked mental retardation syndrome 		0.700 0
dbSNP: rs61749721
rs61749721
MECP2
0.732 0.200 X 154031065 stop gained G/A snv
CUI: C0427190
Disease: Ataxia, Truncal
Ataxia, Truncal 		0.700 0
dbSNP: rs61749721
rs61749721
MECP2
0.732 0.200 X 154031065 stop gained G/A snv
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated 		0.700 0
dbSNP: rs61749721
rs61749721
MECP2
0.732 0.200 X 154031065 stop gained G/A snv
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy 		0.700 0
dbSNP: rs61749721
rs61749721
MECP2
0.732 0.200 X 154031065 stop gained G/A snv
CUI: C0271386
Disease: Vertical Nystagmus
Vertical Nystagmus 		0.700 0