Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs201478192
rs201478192
Entrez Id: 57498
Gene Symbol: KIDINS220
KIDINS220
CUI: C0027651
Disease:
Neoplasms
0.020 GeneticVariation BEFREE Recently, a point mutation in the JAK2 gene, JAK2 (V617F) , was discovered in several myeloid proliferative neoplasms including polycythemia vera (PV), essential thrombocythemia (ET), and primary myelofibrosis (PMF). 23666689 2013
dbSNP: rs201478192
rs201478192
Entrez Id: 57498
Gene Symbol: KIDINS220
KIDINS220
CUI: C0027651
Disease:
Neoplasms
0.020 GeneticVariation BEFREE We investigated whether low levels of JAK2(V617F) are present in lymphoid neoplasms using a highly sensitive and highly specific amplification refractory mutation system PCR (ARMS-PCR) assay. 18032883 2007
dbSNP: rs759435862
rs759435862
Entrez Id: 57498
Gene Symbol: KIDINS220
KIDINS220
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE EGFR mutations were detected in tumor tissues from 27 of 49 NSCLC patients of Han ethnic group , with a positive rate of 55.1%; 19 of them had exon 19 deletions, seven (7) had L858R point mutations in exon 21 of EGFR and one (1) had mutations in both exon 18 G719X and exon 20 T790M of EGFR. 23803047 2013
dbSNP: rs372587282
rs372587282
Entrez Id: 57498
Gene Symbol: KIDINS220
KIDINS220
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE Statistically significant associations were noted between SNPs in beta-catenin and APOE and a positive family history of cancer (beta-catenin: p=0.034, APOE: p=0.033); tumor location and a DCC SNP (p=0.038) and the P53 R72P mutation and survival (p=0.0336). 15523694 2005