rs886040958, ARID1B

N. diseases: 4
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 facies
CUI: C0424503
Disease: Dysmorphic facies
106 1.000 0.280 6 157207395 frameshift variant CC/- delins 0.700 0
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
61 1.000 0.280 6 157207395 frameshift variant CC/- delins 0.700 0
Moderate global developmental delay
CUI: C2237142
Disease: Moderate global developmental delay
21 1.000 0.280 6 157207395 frameshift variant CC/- delins 0.700 0
Muscle hypotonia
CUI: C0026827
Disease: Muscle hypotonia
579 1.000 0.280 6 157207395 frameshift variant CC/- delins 0.700 0