rs1057524157, DEAF1

N. diseases: 19
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.
2-3 toe syndactyly
CUI: C4551570
Disease: 2-3 toe syndactyly
16 0.776 0.200 11 686962 missense variant A/C;T snv 0.700 1.000 2 2017 2017
Absent speech
CUI: C1854882
Disease: Absent speech
72 0.776 0.200 11 686962 missense variant A/C;T snv 0.700 1.000 2 2017 2017
Acid reflux
CUI: C4317146
Disease: Acid reflux
58 0.776 0.200 11 686962 missense variant A/C;T snv 0.700 1.000 2 2017 2017
Aggressive behavior
CUI: C0001807
Disease: Aggressive behavior
22 0.776 0.200 11 686962 missense variant A/C;T snv 0.700 1.000 2 2017 2017
Developmental regression
CUI: C1836830
Disease: Developmental regression
80 0.776 0.200 11 686962 missense variant A/C;T snv 0.700 1.000 2 2017 2017
Feeding difficulties in infancy
CUI: C2674608
Disease: Feeding difficulties in infancy
22 0.776 0.200 11 686962 missense variant A/C;T snv 0.700 1.000 2 2017 2017
Flatfoot
CUI: C0016202
Disease: Flatfoot
38 0.776 0.200 11 686962 missense variant A/C;T snv 0.700 1.000 2 2017 2017
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.776 0.200 11 686962 missense variant A/C;T snv 0.700 1.000 2 2017 2017
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.776 0.200 11 686962 missense variant A/C;T snv 0.700 1.000 2 2017 2017
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
9 0.776 0.200 11 686962 missense variant A/C;T snv 0.700 1.000 2 2017 2017
Normal interictal EEG
CUI: C1843146
Disease: Normal interictal EEG
1 0.776 0.200 11 686962 missense variant A/C;T snv 0.700 1.000 2 2017 2017
Overriding toe
CUI: C0920299
Disease: Overriding toe
13 0.776 0.200 11 686962 missense variant A/C;T snv 0.700 1.000 2 2017 2017
Pica Disease
CUI: C0031873
Disease: Pica Disease
3 0.776 0.200 11 686962 missense variant A/C;T snv 0.700 1.000 2 2017 2017
Recurrent otitis media
CUI: C0747085
Disease: Recurrent otitis media
11 0.776 0.200 11 686962 missense variant A/C;T snv 0.700 1.000 2 2017 2017
Repetitive compulsive behavior
CUI: C1969697
Disease: Repetitive compulsive behavior
4 0.776 0.200 11 686962 missense variant A/C;T snv 0.700 1.000 2 2017 2017
Seizures
CUI: C0036572
Disease: Seizures
553 0.776 0.200 11 686962 missense variant A/C;T snv 0.700 1.000 2 2017 2017
Self-Injurious Behavior
CUI: C0085271
Disease: Self-Injurious Behavior
9 0.776 0.200 11 686962 missense variant A/C;T snv 0.700 1.000 2 2017 2017
Sleep disturbances
CUI: C0037317
Disease: Sleep disturbances
74 0.776 0.200 11 686962 missense variant A/C;T snv 0.700 1.000 2 2017 2017
Tremor
CUI: C0040822
Disease: Tremor
52 0.776 0.200 11 686962 missense variant A/C;T snv 0.700 1.000 2 2017 2017