rs61751362, MECP2

N. diseases: 7
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 0.790 0.160 X 154030948 stop gained G/A;C snv 1.6E-05 0.730 1.000 3 1975 2013
Scoliosis, unspecified
CUI: C0036439
Disease: Scoliosis, unspecified
15 0.790 0.160 X 154030948 stop gained G/A;C snv 1.6E-05 0.020 1.000 2 2006 2010
Ataxic
CUI: C0234366
Disease: Ataxic
4 0.790 0.160 X 154030948 stop gained G/A;C snv 1.6E-05 0.010 1.000 1 2011 2011
Hyperactive behavior
CUI: C0424295
Disease: Hyperactive behavior
100 0.790 0.160 X 154030948 stop gained G/A;C snv 1.6E-05 0.010 1.000 1 2011 2011
Sleep Disorders
CUI: C0851578
Disease: Sleep Disorders
38 0.790 0.160 X 154030948 stop gained G/A;C snv 1.6E-05 0.010 1.000 1 2016 2016
Sleep disturbances
CUI: C0037317
Disease: Sleep disturbances
33 0.790 0.160 X 154030948 stop gained G/A;C snv 1.6E-05 0.010 1.000 1 2016 2016
[D]Sleep disturbances (& [hypersomnia] or [insomnia])
CUI: C0947785
Disease: [D]Sleep disturbances (& [hypersomnia] or [insomnia])
23 0.790 0.160 X 154030948 stop gained G/A;C snv 1.6E-05 0.010 1.000 1 2016 2016