rs1554237658, ARID1B

N. diseases: 3
Source: CLINVAR ×
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.
Dysmorphic features
CUI: C0432072
Disease: Dysmorphic features
611 0.925 0.280 6 157206917 stop gained C/T snv 0.700 1.000 20 1984 2017
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 0.925 0.280 6 157206917 stop gained C/T snv 0.700 1.000 20 1984 2017
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
61 0.925 0.280 6 157206917 stop gained C/T snv 0.700 0