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: rs61751362
rs61751362
MECP2
0.790 0.160 X 154030948 stop gained G/A;C snv 1.6E-05
CUI: C0035372
Disease: Rett Syndrome
Rett Syndrome 		0.730 1.000 17 1975 2013
dbSNP: rs61751362
rs61751362
MECP2
0.790 0.160 X 154030948 stop gained G/A;C snv 1.6E-05
CUI: C1968556
Disease: ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS
ENCEPHALOPATHY, NEONATAL SEVERE, DUE TO MECP2 MUTATIONS 		0.700 1.000 10 2000 2016
dbSNP: rs61751362
rs61751362
MECP2
0.790 0.160 X 154030948 stop gained G/A;C snv 1.6E-05
CUI: C1846058
Disease: Lubs X-linked mental retardation syndrome
Lubs X-linked mental retardation syndrome 		0.700 0
dbSNP: rs61751362
rs61751362
MECP2
0.790 0.160 X 154030948 stop gained G/A;C snv 1.6E-05
CUI: C1845336
Disease: AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3 (finding)
AUTISM, X-LINKED, SUSCEPTIBILITY TO, 3 (finding) 		0.700 0
dbSNP: rs61751362
rs61751362
MECP2
0.790 0.160 X 154030948 stop gained G/A;C snv 1.6E-05
CUI: C0426970
Disease: Spastic Quadriplegia
Spastic Quadriplegia 		0.700 0
dbSNP: rs61751362
rs61751362
MECP2
0.790 0.160 X 154030948 stop gained G/A;C snv 1.6E-05
CUI: C1968550
Disease: Mental Retardation, X-Linked, Syndromic 13
Mental Retardation, X-Linked, Syndromic 13 		0.700 0
dbSNP: rs61751362
rs61751362
MECP2
0.790 0.160 X 154030948 stop gained G/A;C snv 1.6E-05
CUI: C1843367
Disease: Poor school performance
Poor school performance 		0.700 0
dbSNP: rs61751362
rs61751362
MECP2
0.790 0.160 X 154030948 stop gained G/A;C snv 1.6E-05
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding) 		0.700 0