rs869312697, ARID1B

N. diseases: 8
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.
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.882 0.400 6 157207241 stop gained C/T snv 0.700 0
Dysautonomia
CUI: C0013363
Disease: Dysautonomia
18 0.882 0.400 6 157207241 stop gained C/T snv 0.700 0
Fatigue
CUI: C0015672
Disease: Fatigue
67 0.882 0.400 6 157207241 stop gained C/T snv 0.700 0
Growth delay
CUI: C0456070
Disease: Growth delay
40 0.882 0.400 6 157207241 stop gained C/T snv 0.700 0
Large head (disorder)
CUI: C2243051
Disease: Large head (disorder)
116 0.882 0.400 6 157207241 stop gained C/T snv 0.700 0
Laryngotracheomalacia
CUI: C0585984
Disease: Laryngotracheomalacia
6 0.882 0.400 6 157207241 stop gained C/T snv 0.700 0
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
61 0.882 0.400 6 157207241 stop gained C/T snv 0.700 0
Range of joint movement increased
CUI: C1844820
Disease: Range of joint movement increased
46 0.882 0.400 6 157207241 stop gained C/T snv 0.700 0