S100A2, S100 calcium binding protein A2, 6273

N. diseases: 72; N. variants: 2
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1047325
rs1047325
Entrez Id: 6273
Gene Symbol: S100A2
S100A2
CUI: C0007137
Disease:
Squamous cell carcinoma 		0.010 GeneticVariation BEFREE We detected four polymorphisms, two of them published for the first time (144+109 C/G and 297+75A/G) and two already published: S62N, in the coding region and related to squamous cell carcinoma (SCC), and 297+17T/C. 18656279 2009
dbSNP: rs1047325
rs1047325
Entrez Id: 6273
Gene Symbol: S100A2
S100A2
CUI: C0027651
Disease:
Neoplasms 		0.010 GeneticVariation BEFREE In one tumour with S62N polymorphism, P53 and K-RAS genes were also mutated, while two tumours with the Q23X mutation have a P53 but no K-RAS mutation. 18656279 2009
dbSNP: rs532172691
rs532172691
Entrez Id: 6273
Gene Symbol: S100A2
S100A2
CUI: C0007137
Disease:
Squamous cell carcinoma 		0.010 GeneticVariation BEFREE Alterations were detected in 46.7% of squamous lung cancer (SCC) samples, but we detected only one novel tumour specific mutation, Q23X in squamous carcinoma. 18656279 2009