rs387907141, ARID1B

N. diseases: 24
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.
Abnormality of the pinna
CUI: C0857379
Disease: Abnormality of the pinna
9 0.752 0.360 6 157181137 stop gained C/T snv 0.700 0
Brachycephaly
CUI: C0221356
Disease: Brachycephaly
20 0.752 0.360 6 157181137 stop gained C/T snv 0.700 0
Cleft palate, isolated
CUI: C1837218
Disease: Cleft palate, isolated
70 0.752 0.360 6 157181137 stop gained C/T snv 0.700 0
Clinodactyly of the 5th finger
CUI: C1850049
Disease: Clinodactyly of the 5th finger
39 0.752 0.360 6 157181137 stop gained C/T snv 0.700 0
Congenital dilatation of ureter
CUI: C0266324
Disease: Congenital dilatation of ureter
1 0.752 0.360 6 157181137 stop gained C/T snv 0.700 0
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.752 0.360 6 157181137 stop gained C/T snv 0.700 0
Downward slant of palpebral fissure
CUI: C0423110
Disease: Downward slant of palpebral fissure
49 0.752 0.360 6 157181137 stop gained C/T snv 0.700 0
Dry hair
CUI: C0277960
Disease: Dry hair
2 0.752 0.360 6 157181137 stop gained C/T snv 0.700 0
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 0.752 0.360 6 157181137 stop gained C/T snv 0.700 0
Hypersensitivity
CUI: C0020517
Disease: Hypersensitivity
2 0.752 0.360 6 157181137 stop gained C/T snv 0.700 0
Hypoplastic fifth toenail
CUI: C4023116
Disease: Hypoplastic fifth toenail
4 0.752 0.360 6 157181137 stop gained C/T snv 0.700 0
Hypothyroidism
CUI: C0020676
Disease: Hypothyroidism
283 0.752 0.360 6 157181137 stop gained C/T snv 0.700 0
Low anterior hairline
CUI: C1842366
Disease: Low anterior hairline
17 0.752 0.360 6 157181137 stop gained C/T snv 0.700 0
Low-set, posteriorly rotated ears
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
19 0.752 0.360 6 157181137 stop gained C/T snv 0.700 0
Macrostomia
CUI: C0024433
Disease: Macrostomia
11 0.752 0.360 6 157181137 stop gained C/T snv 0.700 0
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
61 0.752 0.360 6 157181137 stop gained C/T snv 0.700 0
Microdontia (disorder)
CUI: C0240340
Disease: Microdontia (disorder)
6 0.752 0.360 6 157181137 stop gained C/T snv 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.752 0.360 6 157181137 stop gained C/T snv 0.700 0
Myopia
CUI: C0027092
Disease: Myopia
167 0.752 0.360 6 157181137 stop gained C/T snv 0.700 0
Sandal gap
CUI: C1840069
Disease: Sandal gap
6 0.752 0.360 6 157181137 stop gained C/T snv 0.700 0
Seizures
CUI: C0036572
Disease: Seizures
553 0.752 0.360 6 157181137 stop gained C/T snv 0.700 0
Severe global developmental delay
CUI: C1837397
Disease: Severe global developmental delay
50 0.752 0.360 6 157181137 stop gained C/T snv 0.700 0
Thin upper lip vermilion
CUI: C1865017
Disease: Thin upper lip vermilion
25 0.752 0.360 6 157181137 stop gained C/T snv 0.700 0
Widely spaced teeth
CUI: C1844813
Disease: Widely spaced teeth
10 0.752 0.360 6 157181137 stop gained C/T snv 0.700 0