rs121918465, PTPN11

N. diseases: 7
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.
Juvenile Myelomonocytic Leukemia
CUI: C0349639
Disease: Juvenile Myelomonocytic Leukemia
70 0.827 0.200 12 112450407 missense variant A/C;G;T snv 0.800 1.000 13 2003 2016
Astrocytoma
CUI: C0004114
Disease: Astrocytoma
59 0.827 0.200 12 112450407 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
Colorectal Neoplasms
CUI: C0009404
Disease: Colorectal Neoplasms
609 0.827 0.200 12 112450407 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
Multiple Myeloma
CUI: C0026764
Disease: Multiple Myeloma
865 0.827 0.200 12 112450407 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
NEUROBLASTOMA, SUSCEPTIBILITY TO
CUI: C2749484
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO
34 0.827 0.200 12 112450407 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
Squamous cell carcinoma of lung
CUI: C0149782
Disease: Squamous cell carcinoma of lung
283 0.827 0.200 12 112450407 missense variant A/C;G;T snv 0.700 1.000 1 2016 2016
skin fold (abnormality)
CUI: C1399793
Disease: skin fold (abnormality)
8 0.827 0.200 12 112450407 missense variant A/C;G;T snv 0.010 1.000 1 2019 2019