rs1131692272, AFF3

N. diseases: 8
Source: CLINVAR ×
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 skeletal system
CUI: C4021790
Disease: Abnormality of the skeletal system
13 0.851 0.240 2 100006808 missense variant C/T snv 0.700 0
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.851 0.240 2 100006808 missense variant C/T snv 0.700 0
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
106 0.851 0.240 2 100006808 missense variant C/T snv 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.851 0.240 2 100006808 missense variant C/T snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
505 0.851 0.240 2 100006808 missense variant C/T snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
417 0.851 0.240 2 100006808 missense variant C/T snv 0.700 0
Severe intellectual disability
CUI: C0036857
Disease: Severe intellectual disability
62 0.851 0.240 2 100006808 missense variant C/T snv 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.851 0.240 2 100006808 missense variant C/T snv 0.700 0