rs1554944271, DEAF1

N. diseases: 14
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.
Abnormality of the cerebellum
CUI: C1866129
Disease: Abnormality of the cerebellum
11 0.851 0.240 11 686925 missense variant C/G snv 0.700 1.000 1 2017 2017
Aggressive behavior
CUI: C0001807
Disease: Aggressive behavior
22 0.851 0.240 11 686925 missense variant C/G snv 0.700 1.000 1 2017 2017
Autistic behavior
CUI: C0856975
Disease: Autistic behavior
78 0.851 0.240 11 686925 missense variant C/G snv 0.700 1.000 1 2017 2017
Congenital Dysplasia Of The Hip
CUI: C4551649
Disease: Congenital Dysplasia Of The Hip
27 0.851 0.240 11 686925 missense variant C/G snv 0.700 1.000 1 2017 2017
Constipation
CUI: C0009806
Disease: Constipation
57 0.851 0.240 11 686925 missense variant C/G snv 0.700 1.000 1 2017 2017
EEG with central focal spikes
CUI: C4023077
Disease: EEG with central focal spikes
2 0.851 0.240 11 686925 missense variant C/G snv 0.700 1.000 1 2017 2017
Low frequency deafness
CUI: C0271514
Disease: Low frequency deafness
1 0.851 0.240 11 686925 missense variant C/G snv 0.700 1.000 1 2017 2017
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
CUI: C4014414
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
9 0.851 0.240 11 686925 missense variant C/G snv 0.700 1.000 1 2017 2017
Mild intrauterine growth retardation
CUI: C1840006
Disease: Mild intrauterine growth retardation
1 0.851 0.240 11 686925 missense variant C/G snv 0.700 1.000 1 2017 2017
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.851 0.240 11 686925 missense variant C/G snv 0.700 1.000 1 2017 2017
Postauricular skin tag
CUI: C4025323
Disease: Postauricular skin tag
1 0.851 0.240 11 686925 missense variant C/G snv 0.700 1.000 1 2017 2017
Seizures
CUI: C0036572
Disease: Seizures
553 0.851 0.240 11 686925 missense variant C/G snv 0.700 1.000 1 2017 2017
Self-Injurious Behavior
CUI: C0085271
Disease: Self-Injurious Behavior
9 0.851 0.240 11 686925 missense variant C/G snv 0.700 1.000 1 2017 2017
Sleep disturbances
CUI: C0037317
Disease: Sleep disturbances
74 0.851 0.240 11 686925 missense variant C/G snv 0.700 1.000 1 2017 2017