rs28934906, MECP2

N. diseases: 8
Source: BEFREE ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Rett Syndrome
CUI: C0035372
Disease: Rett Syndrome
54 0.716 0.320 X 154031355 missense variant G/A snv 0.900 1.000 11 1999 2017
Seizures
CUI: C0036572
Disease: Seizures
139 0.716 0.320 X 154031355 missense variant G/A snv 0.710 1.000 1 2000 2019
Encephalopathies
CUI: C0085584
Disease: Encephalopathies
64 0.716 0.320 X 154031355 missense variant G/A snv 0.020 1.000 2 2003 2006
Epilepsy
CUI: C0014544
Disease: Epilepsy
250 0.716 0.320 X 154031355 missense variant G/A snv 0.020 1.000 2 2010 2015
Ataxic
CUI: C0234366
Disease: Ataxic
4 0.716 0.320 X 154031355 missense variant G/A snv 0.010 1.000 1 2011 2011
Sleep Disorders
CUI: C0851578
Disease: Sleep Disorders
38 0.716 0.320 X 154031355 missense variant G/A snv 0.010 1.000 1 2006 2006
Sleep disturbances
CUI: C0037317
Disease: Sleep disturbances
33 0.716 0.320 X 154031355 missense variant G/A snv 0.010 1.000 1 2006 2006
[D]Sleep disturbances (& [hypersomnia] or [insomnia])
CUI: C0947785
Disease: [D]Sleep disturbances (& [hypersomnia] or [insomnia])
23 0.716 0.320 X 154031355 missense variant G/A snv 0.010 1.000 1 2006 2006