rs796052676, KCNQ3

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.
Angelman Syndrome
CUI: C0162635
Disease: Angelman Syndrome
135 0.807 0.200 8 132180246 missense variant G/A snv 0.700 0
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.807 0.200 8 132180246 missense variant G/A snv 0.700 0
EPILEPSY, BENIGN NEONATAL, 2
CUI: C1852581
Disease: EPILEPSY, BENIGN NEONATAL, 2
20 0.807 0.200 8 132180246 missense variant G/A snv 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.807 0.200 8 132180246 missense variant G/A snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.807 0.200 8 132180246 missense variant G/A snv 0.700 0
Moderate intellectual disability
CUI: C0026351
Disease: Moderate intellectual disability
94 0.807 0.200 8 132180246 missense variant G/A snv 0.700 0
SEIZURES, BENIGN FAMILIAL INFANTILE, 5
CUI: C4310728
Disease: SEIZURES, BENIGN FAMILIAL INFANTILE, 5
6 0.807 0.200 8 132180246 missense variant G/A snv 0.700 0
Encephalopathies
CUI: C0085584
Disease: Encephalopathies
64 0.807 0.200 8 132180246 missense variant G/A snv 0.010 1.000 1 2015 2015
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.807 0.200 8 132180246 missense variant G/A snv 0.010 1.000 1 2015 2015
Intellectual Disability
CUI: C3714756
Disease: Intellectual Disability
159 0.807 0.200 8 132180246 missense variant G/A snv 0.010 1.000 1 2015 2015