rs397507524, PTPN11

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 1
CUI: C4551602
Disease: Noonan Syndrome 1
83 1.000 0.160 12 112472949 inframe insertion ACA/-;ACAACA delins 0.700 0