rs1314542724, NPR2

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.
ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
CUI: C1864356
Disease: ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE
17 0.925 0.120 9 35805595 missense variant C/T snv 0.700 0
Dwarfism
CUI: C0013336
Disease: Dwarfism
77 0.925 0.120 9 35805595 missense variant C/T snv 0.010 1 2007 2007