rs1554943158, DEAF1

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.
Autistic behavior
CUI: C0856975
Disease: Autistic behavior
78 0.882 0.040 11 681045 inframe deletion CTT/- delins 0.700 1.000 1 2017 2017
Central hypotonia
CUI: C1842364
Disease: Central hypotonia
25 0.882 0.040 11 681045 inframe deletion CTT/- delins 0.700 1.000 1 2017 2017
Cerebellar Ataxia
CUI: C0007758
Disease: Cerebellar Ataxia
120 0.882 0.040 11 681045 inframe deletion CTT/- delins 0.700 1.000 1 2017 2017
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.882 0.040 11 681045 inframe deletion CTT/- delins 0.700 1.000 1 2017 2017
MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
CUI: C4014414
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 24
9 0.882 0.040 11 681045 inframe deletion CTT/- delins 0.700 1.000 1 2017 2017
Seizures
CUI: C0036572
Disease: Seizures
553 0.882 0.040 11 681045 inframe deletion CTT/- delins 0.700 1.000 1 2017 2017