rs397507523, PTPN11

N. diseases: 3
Disease: LEOPARD Syndrome ×
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.
LEOPARD Syndrome
CUI: C0175704
Disease: LEOPARD Syndrome
27 0.882 0.160 12 112472954 missense variant A/G snv 0.700 1.000 6 2003 2014