rs1135402761, SYT1

N. diseases: 11
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.
BAKER-GORDON SYNDROME
CUI: C4748715
Disease: BAKER-GORDON SYNDROME
5 0.827 0.320 12 79448958 missense variant T/C snv 0.800 1.000 2 2015 2018
Delayed speech and language development
192 0.827 0.320 12 79448958 missense variant T/C snv 0.700 0
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
106 0.827 0.320 12 79448958 missense variant T/C snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.827 0.320 12 79448958 missense variant T/C snv 0.700 0
Impulsive Behavior
CUI: C0021125
Disease: Impulsive Behavior
69 0.827 0.320 12 79448958 missense variant T/C snv 0.700 0
Micrognathism
CUI: C0025990
Disease: Micrognathism
53 0.827 0.320 12 79448958 missense variant T/C snv 0.700 0
Moderate intellectual disability
CUI: C0026351
Disease: Moderate intellectual disability
94 0.827 0.320 12 79448958 missense variant T/C snv 0.700 0
Movement Disorders
CUI: C0026650
Disease: Movement Disorders
247 0.827 0.320 12 79448958 missense variant T/C snv 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.827 0.320 12 79448958 missense variant T/C snv 0.700 0
Nystagmus
CUI: C0028738
Disease: Nystagmus
95 0.827 0.320 12 79448958 missense variant T/C snv 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.827 0.320 12 79448958 missense variant T/C snv 0.700 0