rs387906846, ARID1A

N. diseases: 19
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.
Absent speech
CUI: C1854882
Disease: Absent speech
72 0.807 0.280 1 26773716 stop gained C/G;T snv 0.700 0
Atrial Septal Defects
CUI: C0018817
Disease: Atrial Septal Defects
96 0.807 0.280 1 26773716 stop gained C/G;T snv 0.700 0
Byzanthine arch palate
CUI: C0240635
Disease: Byzanthine arch palate
70 0.807 0.280 1 26773716 stop gained C/G;T snv 0.700 0
Feeding difficulties
CUI: C0232466
Disease: Feeding difficulties
62 0.807 0.280 1 26773716 stop gained C/G;T snv 0.700 0
Generalized hypertrichosis
CUI: C3277940
Disease: Generalized hypertrichosis
4 0.807 0.280 1 26773716 stop gained C/G;T snv 0.700 0
Hyperactive behavior
CUI: C0424295
Disease: Hyperactive behavior
112 0.807 0.280 1 26773716 stop gained C/G;T snv 0.700 0
Hypoplastic fifth fingernail
CUI: C4024682
Disease: Hypoplastic fifth fingernail
3 0.807 0.280 1 26773716 stop gained C/G;T snv 0.700 0
Hypoplastic fifth toenail
CUI: C4023116
Disease: Hypoplastic fifth toenail
4 0.807 0.280 1 26773716 stop gained C/G;T snv 0.700 0
Kyphoscoliosis deformity of spine
CUI: C0575158
Disease: Kyphoscoliosis deformity of spine
17 0.807 0.280 1 26773716 stop gained C/G;T snv 0.700 0
Long eyelashes
CUI: C1853738
Disease: Long eyelashes
17 0.807 0.280 1 26773716 stop gained C/G;T snv 0.700 0
Long philtrum
CUI: C1865014
Disease: Long philtrum
16 0.807 0.280 1 26773716 stop gained C/G;T snv 0.700 0
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
61 0.807 0.280 1 26773716 stop gained C/G;T snv 0.700 0
MENTAL RETARDATION, AUTOSOMAL DOMINANT 14
CUI: C3553247
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 14
12 0.807 0.280 1 26773716 stop gained C/G;T snv 0.700 0
Nasal bridge wide
CUI: C1849367
Disease: Nasal bridge wide
29 0.807 0.280 1 26773716 stop gained C/G;T snv 0.700 0
Recurrent infections
CUI: C0239998
Disease: Recurrent infections
14 0.807 0.280 1 26773716 stop gained C/G;T snv 0.700 0
Severe global developmental delay
CUI: C1837397
Disease: Severe global developmental delay
50 0.807 0.280 1 26773716 stop gained C/G;T snv 0.700 0
Sparse scalp hair
CUI: C1857042
Disease: Sparse scalp hair
7 0.807 0.280 1 26773716 stop gained C/G;T snv 0.700 0
Thick eyebrow
CUI: C1853487
Disease: Thick eyebrow
13 0.807 0.280 1 26773716 stop gained C/G;T snv 0.700 0
Thick lower lip vermilion
CUI: C1839739
Disease: Thick lower lip vermilion
10 0.807 0.280 1 26773716 stop gained C/G;T snv 0.700 0