rs786205227, PPP2R1A

N. diseases: 1
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.
MENTAL RETARDATION, AUTOSOMAL DOMINANT 36
CUI: C4225352
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 36
5 1.000 19 52212726 missense variant C/T snv 0.800 0