rs886039903, FGF12

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.
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47
CUI: C4310685
Disease: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47
2 0.807 0.200 3 192335434 missense variant C/T snv 0.800 0
Autistic behavior
CUI: C0856975
Disease: Autistic behavior
78 0.807 0.200 3 192335434 missense variant C/T snv 0.700 0
Eczema
CUI: C0013595
Disease: Eczema
368 0.807 0.200 3 192335434 missense variant C/T snv 0.700 0
Moderate intellectual disability
CUI: C0026351
Disease: Moderate intellectual disability
94 0.807 0.200 3 192335434 missense variant C/T snv 0.700 0
Epilepsy
CUI: C0014544
Disease: Epilepsy
339 0.807 0.200 3 192335434 missense variant C/T snv 0.020 1.000 2 2019 2019
Epileptic encephalopathy
CUI: C0543888
Disease: Epileptic encephalopathy
126 0.807 0.200 3 192335434 missense variant C/T snv 0.010 1.000 1 2017 2017