rs118192212, KCNQ2

N. diseases: 6
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.
Benign Rolandic Epilepsy
CUI: C2363129
Disease: Benign Rolandic Epilepsy
2 0.925 0.040 20 63439610 inframe deletion AAG/- delins 0.700 1.000 2 2009 2012
Cortical visual impairment
CUI: C4048268
Disease: Cortical visual impairment
27 0.925 0.040 20 63439610 inframe deletion AAG/- delins 0.700 0
Delayed speech and language development
192 0.925 0.040 20 63439610 inframe deletion AAG/- delins 0.700 0
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 7
91 0.925 0.040 20 63439610 inframe deletion AAG/- delins 0.700 0
Muscle Hypertonia
CUI: C0026826
Disease: Muscle Hypertonia
21 0.925 0.040 20 63439610 inframe deletion AAG/- delins 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.925 0.040 20 63439610 inframe deletion AAG/- delins 0.700 0