rs267606985, PTHLH

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.
BRACHYDACTYLY, TYPE E2
CUI: C3150644
Disease: BRACHYDACTYLY, TYPE E2
4 1.000 12 27963693 missense variant A/G snv 0.800 1.000 1 2010 2010
Malignant neoplasm of soft tissue
CUI: C4551686
Disease: Malignant neoplasm of soft tissue
32 1.000 12 27963693 missense variant A/G snv 0.010 1.000 1 2010 2010
Sarcoma
CUI: C1261473
Disease: Sarcoma
42 1.000 12 27963693 missense variant A/G snv 0.010 1.000 1 2010 2010