rs797045283, ARID1B

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.
Congenital talipes calcaneovalgus
CUI: C4551629
Disease: Congenital talipes calcaneovalgus
1 0.827 0.320 6 157207109 stop gained C/T snv 0.700 0
Deglutition Disorders
CUI: C0011168
Disease: Deglutition Disorders
50 0.827 0.320 6 157207109 stop gained C/T snv 0.700 0
Generalized hypotonia
CUI: C1858120
Disease: Generalized hypotonia
164 0.827 0.320 6 157207109 stop gained C/T snv 0.700 0
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.827 0.320 6 157207109 stop gained C/T snv 0.700 0
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
61 0.827 0.320 6 157207109 stop gained C/T snv 0.700 0
Premature Birth
CUI: C0151526
Disease: Premature Birth
50 0.827 0.320 6 157207109 stop gained C/T snv 0.700 0
Range of joint movement increased
CUI: C1844820
Disease: Range of joint movement increased
46 0.827 0.320 6 157207109 stop gained C/T snv 0.700 0
Relative macrocephaly
CUI: C1849075
Disease: Relative macrocephaly
19 0.827 0.320 6 157207109 stop gained C/T snv 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.827 0.320 6 157207109 stop gained C/T snv 0.700 0
Strawberry nevus of skin
CUI: C0206733
Disease: Strawberry nevus of skin
10 0.827 0.320 6 157207109 stop gained C/T snv 0.700 0
Torticollis
CUI: C0040485
Disease: Torticollis
10 0.827 0.320 6 157207109 stop gained C/T snv 0.700 0