rs1057519565, DEAF1

N. diseases: 9
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.
Absent speech
CUI: C1854882
Disease: Absent speech
72 0.851 0.200 11 687941 missense variant C/T snv 0.700 1.000 1 2017 2017
Acid reflux
CUI: C4317146
Disease: Acid reflux
58 0.851 0.200 11 687941 missense variant C/T snv 0.700 1.000 1 2017 2017
Autistic behavior
CUI: C0856975
Disease: Autistic behavior
78 0.851 0.200 11 687941 missense variant C/T snv 0.700 1.000 1 2017 2017
Developmental regression
CUI: C1836830
Disease: Developmental regression
80 0.851 0.200 11 687941 missense variant C/T snv 0.700 1.000 1 2017 2017
Large hand
CUI: C0426870
Disease: Large hand
7 0.851 0.200 11 687941 missense variant C/T snv 0.700 1.000 1 2017 2017
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
CUI: C4014414
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
9 0.851 0.200 11 687941 missense variant C/T snv 0.700 1.000 1 2017 2017
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.851 0.200 11 687941 missense variant C/T snv 0.700 1.000 1 2017 2017
Relative macrocephaly
CUI: C1849075
Disease: Relative macrocephaly
19 0.851 0.200 11 687941 missense variant C/T snv 0.700 1.000 1 2017 2017
Seizures
CUI: C0036572
Disease: Seizures
553 0.851 0.200 11 687941 missense variant C/T snv 0.700 1.000 1 2017 2017