rs587784169, NSD1

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.
SOTOS SYNDROME 1
CUI: C4551477
Disease: SOTOS SYNDROME 1
201 0.925 0.040 5 177282523 missense variant G/A;C snv 0.800 1.000 4 2002 2004
Beckwith-Wiedemann Syndrome
CUI: C0004903
Disease: Beckwith-Wiedemann Syndrome
84 0.925 0.040 5 177282523 missense variant G/A;C snv 0.700 0