rs1554189482, NSD1

N. diseases: 1
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 1.000 0.040 5 177210710 frameshift variant G/- delins 0.700 0