rs1372399305, ACAN

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.
Noonan Syndrome
CUI: C0028326
Disease: Noonan Syndrome
187 1.000 0.160 15 88847281 missense variant T/A;C snv 0.010 1.000 1 2018 2018