rs74315442, CSTB

N. diseases: 10
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.
Unverricht-Lundborg Syndrome
CUI: C0751785
Disease: Unverricht-Lundborg Syndrome
17 0.851 0.200 21 43774297 stop gained G/A snv 4.0E-05 2.1E-05 0.710 1.000 11 1996 2016
Epilepsy, Rolandic
CUI: C0376532
Disease: Epilepsy, Rolandic
81 0.851 0.200 21 43774297 stop gained G/A snv 4.0E-05 2.1E-05 0.700 1.000 1 2018 2018
Aplasia/Hypoplasia of the corpus callosum
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
8 0.851 0.200 21 43774297 stop gained G/A snv 4.0E-05 2.1E-05 0.700 0
Dyskinetic syndrome
CUI: C0013384
Disease: Dyskinetic syndrome
42 0.851 0.200 21 43774297 stop gained G/A snv 4.0E-05 2.1E-05 0.700 0
Dystonia
CUI: C0013421
Disease: Dystonia
97 0.851 0.200 21 43774297 stop gained G/A snv 4.0E-05 2.1E-05 0.700 0
Global brain atrophy
CUI: C0241816
Disease: Global brain atrophy
6 0.851 0.200 21 43774297 stop gained G/A snv 4.0E-05 2.1E-05 0.700 0
Motor delay
CUI: C1854301
Disease: Motor delay
34 0.851 0.200 21 43774297 stop gained G/A snv 4.0E-05 2.1E-05 0.700 0
Progressive microcephaly
CUI: C1850456
Disease: Progressive microcephaly
4 0.851 0.200 21 43774297 stop gained G/A snv 4.0E-05 2.1E-05 0.700 0
Severe global developmental delay
CUI: C1837397
Disease: Severe global developmental delay
50 0.851 0.200 21 43774297 stop gained G/A snv 4.0E-05 2.1E-05 0.700 0
Severe intellectual disability
CUI: C0036857
Disease: Severe intellectual disability
74 0.851 0.200 21 43774297 stop gained G/A snv 4.0E-05 2.1E-05 0.700 0