rs281875196, SMARCA2

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.
Nicolaides Baraitser syndrome
CUI: C1303073
Disease: Nicolaides Baraitser syndrome
38 0.851 0.320 9 2115927 missense variant G/A;C snv 0.800 1.000 4 2012 2017
Abnormality of the dentition
CUI: C0262444
Disease: Abnormality of the dentition
16 0.851 0.320 9 2115927 missense variant G/A;C snv 0.700 0
Broad forehead
CUI: C1849089
Disease: Broad forehead
13 0.851 0.320 9 2115927 missense variant G/A;C snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.851 0.320 9 2115927 missense variant G/A;C snv 0.700 0
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.851 0.320 9 2115927 missense variant G/A;C snv 0.700 0
MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
CUI: C3887485
Disease: MIGRAINE WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 1
19 0.851 0.320 9 2115927 missense variant G/A;C snv 0.700 0
Moderate intellectual disability
CUI: C0026351
Disease: Moderate intellectual disability
94 0.851 0.320 9 2115927 missense variant G/A;C snv 0.700 0
Precocious Puberty
CUI: C0034013
Disease: Precocious Puberty
20 0.851 0.320 9 2115927 missense variant G/A;C snv 0.700 0
recurrent muscle twitches (symptom)
CUI: C2169806
Disease: recurrent muscle twitches (symptom)
7 0.851 0.320 9 2115927 missense variant G/A;C snv 0.700 0