rs587777623, DEAF1

N. diseases: 8
Source: ALL
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.
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.882 0.120 11 686986 missense variant G/A snv 4.0E-06 0.700 1.000 10 2010 2017
DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
CUI: C4310683
Disease: DYSKINESIA, SEIZURES, AND INTELLECTUAL DEVELOPMENTAL DISORDER
1 0.882 0.120 11 686986 missense variant G/A snv 4.0E-06 0.700 1.000 4 2014 2017
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.882 0.120 11 686986 missense variant G/A snv 4.0E-06 0.700 1.000 4 2014 2017
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.882 0.120 11 686986 missense variant G/A snv 4.0E-06 0.700 1.000 4 2014 2017
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.882 0.120 11 686986 missense variant G/A snv 4.0E-06 0.700 1.000 4 2014 2017
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
159 0.882 0.120 11 686986 missense variant G/A snv 4.0E-06 0.010 1 2016 2016
Leukoencephalopathy
CUI: C0270612
Disease: Leukoencephalopathy
17 0.882 0.120 11 686986 missense variant G/A snv 4.0E-06 0.010 1.000 1 2016 2016
Microcephaly
CUI: C0025958
Disease: Microcephaly
27 0.882 0.120 11 686986 missense variant G/A snv 4.0E-06 0.010 1 2016 2016