rs606231272, SETBP1

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.
MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
CUI: C4015141
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 29
8 0.925 0.240 18 44951213 stop gained C/T snv 0.700 0
Schinzel-Giedion syndrome
CUI: C0265227
Disease: Schinzel-Giedion syndrome
8 0.925 0.240 18 44951213 stop gained C/T snv 0.700 0