rs1562354784, ARID1B

N. diseases: 2
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.
Coffin-Siris syndrome
CUI: C0265338
Disease: Coffin-Siris syndrome
6 0.925 0.280 6 157207612 frameshift variant A/- delins 0.700 0
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
61 0.925 0.280 6 157207612 frameshift variant A/- delins 0.700 0