rs1554236040, ARID1B

N. diseases: 5
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 ear anomaly NOS (disorder)
CUI: C0266589
Disease: Congenital ear anomaly NOS (disorder)
5 0.882 0.320 6 157201464 stop gained C/T snv 0.700 0
Eczema
CUI: C0013595
Disease: Eczema
368 0.882 0.320 6 157201464 stop gained C/T snv 0.700 0
Lumbar hyperlordosis
CUI: C1184923
Disease: Lumbar hyperlordosis
8 0.882 0.320 6 157201464 stop gained C/T snv 0.700 0
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
61 0.882 0.320 6 157201464 stop gained C/T snv 0.700 0
Orbital separation excessive
CUI: C0020534
Disease: Orbital separation excessive
77 0.882 0.320 6 157201464 stop gained C/T snv 0.700 0