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: rs74315442
rs74315442
CSTB
0.851 0.200 21 43774297 stop gained G/A snv 4.0E-05 2.1E-05
CUI: C0751785
Disease: Unverricht-Lundborg Syndrome
Unverricht-Lundborg Syndrome 		0.710 1.000 11 1996 2016
dbSNP: rs74315442
rs74315442
CSTB
0.851 0.200 21 43774297 stop gained G/A snv 4.0E-05 2.1E-05
CUI: C0376532
Disease: Epilepsy, Rolandic
Epilepsy, Rolandic 		0.700 1.000 1 2018 2018
dbSNP: rs74315442
rs74315442
CSTB
0.851 0.200 21 43774297 stop gained G/A snv 4.0E-05 2.1E-05
CUI: C1861866
Disease: Aplasia/Hypoplasia of the corpus callosum
Aplasia/Hypoplasia of the corpus callosum 		0.700 0
dbSNP: rs74315442
rs74315442
CSTB
0.851 0.200 21 43774297 stop gained G/A snv 4.0E-05 2.1E-05
CUI: C1854301
Disease: Motor delay
Motor delay 		0.700 0
dbSNP: rs74315442
rs74315442
CSTB
0.851 0.200 21 43774297 stop gained G/A snv 4.0E-05 2.1E-05
CUI: C0036857
Disease: Severe intellectual disability
Severe intellectual disability 		0.700 0
dbSNP: rs74315442
rs74315442
CSTB
0.851 0.200 21 43774297 stop gained G/A snv 4.0E-05 2.1E-05
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		0.700 0
dbSNP: rs74315442
rs74315442
CSTB
0.851 0.200 21 43774297 stop gained G/A snv 4.0E-05 2.1E-05
CUI: C0013421
Disease: Dystonia
Dystonia 		0.700 0
dbSNP: rs74315442
rs74315442
CSTB
0.851 0.200 21 43774297 stop gained G/A snv 4.0E-05 2.1E-05
CUI: C1837397
Disease: Severe global developmental delay
Severe global developmental delay 		0.700 0
dbSNP: rs74315442
rs74315442
CSTB
0.851 0.200 21 43774297 stop gained G/A snv 4.0E-05 2.1E-05
CUI: C1850456
Disease: Progressive microcephaly
Progressive microcephaly 		0.700 0
dbSNP: rs74315442
rs74315442
CSTB
0.851 0.200 21 43774297 stop gained G/A snv 4.0E-05 2.1E-05
CUI: C0241816
Disease: Global brain atrophy
Global brain atrophy 		0.700 0