rs587777446, IFIH1

N. diseases: 11
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.
AICARDI-GOUTIERES SYNDROME 7
CUI: C3888244
Disease: AICARDI-GOUTIERES SYNDROME 7
15 0.807 0.200 2 162273913 missense variant C/T snv 4.0E-06 0.800 1.000 2 2014 2014
Abnormal upper motor neuron morphology
CUI: C4025723
Disease: Abnormal upper motor neuron morphology
1 0.807 0.200 2 162273913 missense variant C/T snv 4.0E-06 0.700 0
Abnormality of the basal ganglia
CUI: C4520981
Disease: Abnormality of the basal ganglia
3 0.807 0.200 2 162273913 missense variant C/T snv 4.0E-06 0.700 0
Clonus
CUI: C0009024
Disease: Clonus
4 0.807 0.200 2 162273913 missense variant C/T snv 4.0E-06 0.700 0
Developmental regression
CUI: C1836830
Disease: Developmental regression
80 0.807 0.200 2 162273913 missense variant C/T snv 4.0E-06 0.700 0
Hyperreflexia
CUI: C0151889
Disease: Hyperreflexia
19 0.807 0.200 2 162273913 missense variant C/T snv 4.0E-06 0.700 0
Leukoaraiosis
CUI: C0948163
Disease: Leukoaraiosis
24 0.807 0.200 2 162273913 missense variant C/T snv 4.0E-06 0.700 0
Neonatal Hypotonia
CUI: C2267233
Disease: Neonatal Hypotonia
45 0.807 0.200 2 162273913 missense variant C/T snv 4.0E-06 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.807 0.200 2 162273913 missense variant C/T snv 4.0E-06 0.700 0
SINGLETON-MERTEN SYNDROME 1
CUI: C4225427
Disease: SINGLETON-MERTEN SYNDROME 1
5 0.807 0.200 2 162273913 missense variant C/T snv 4.0E-06 0.700 0
Lupus Erythematosus, Systemic
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
1172 0.807 0.200 2 162273913 missense variant C/T snv 4.0E-06 0.010 1.000 1 2015 2015