rs1057518801, SCN3A

N. diseases: 5
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.
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62
CUI: C4693699
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 62
5 0.851 0.080 2 165130238 missense variant A/G snv 0.800 0
Polymicrogyria
CUI: C0266464
Disease: Polymicrogyria
29 0.851 0.080 2 165130238 missense variant A/G snv 0.710 1.000 1 2018 2018
Developmental delay (disorder)
CUI: C0424605
Disease: Developmental delay (disorder)
68 0.851 0.080 2 165130238 missense variant A/G snv 0.700 0
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.851 0.080 2 165130238 missense variant A/G snv 0.010 1.000 1 2018 2018
Epileptic encephalopathy
CUI: C0543888
Disease: Epileptic encephalopathy
126 0.851 0.080 2 165130238 missense variant A/G snv 0.010 1.000 1 2018 2018