rs387907158, PTPN11

N. diseases: 3
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.
Metachondromatosis
CUI: C0410530
Disease: Metachondromatosis
29 0.882 0.160 12 112450475 stop gained A/T snv 0.700 0
HER2-negative breast cancer
CUI: C4733095
Disease: HER2-negative breast cancer
18 0.882 0.160 12 112450475 stop gained A/T snv 0.010 1.000 1 2019 2019
HER2-positive carcinoma of breast
CUI: C1960398
Disease: HER2-positive carcinoma of breast
26 0.882 0.160 12 112450475 stop gained A/T snv 0.010 1.000 1 2019 2019