Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1057518965
rs1057518965
ATM
T 0.700 CausalMutation CLINVAR

dbSNP: rs1336343565
rs1336343565
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555119899
rs1555119899
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555257073
rs1555257073
C 0.700 CausalMutation CLINVAR

dbSNP: rs1555908409
rs1555908409
T 0.700 GeneticVariation CLINVAR

dbSNP: rs3218716
rs3218716
T 0.700 GeneticVariation CLINVAR

dbSNP: rs74315329
rs74315329
A 0.700 GeneticVariation CLINVAR

dbSNP: rs128620185
rs128620185
BTK
0.010 GeneticVariation BEFREE One amino acid substitution (R28H) was found in the pleckstrin homology domain's residue, which is mutated in mice bearing the X-linked immunodeficiency phenotype; another substitution (R307G) was identified in the src homology domain 2. 9143921

1997

dbSNP: rs128621195
rs128621195
BTK
0.010 GeneticVariation BEFREE One amino acid substitution (R28H) was found in the pleckstrin homology domain's residue, which is mutated in mice bearing the X-linked immunodeficiency phenotype; another substitution (R307G) was identified in the src homology domain 2. 9143921

1997

dbSNP: rs201137953
rs201137953
0.010 GeneticVariation BEFREE The binding site of human adenosine deaminase for CD26/Dipeptidyl peptidase IV: the Arg142Gln mutation impairs binding to cd26 but does not cause immune deficiency. 11067872

2000

dbSNP: rs61732239
rs61732239
ADA
0.010 GeneticVariation BEFREE The binding site of human adenosine deaminase for CD26/Dipeptidyl peptidase IV: the Arg142Gln mutation impairs binding to cd26 but does not cause immune deficiency. 11067872

2000

dbSNP: rs121913529
rs121913529
0.030 GeneticVariation BEFREE We show here that the expression of K-ras(G12V) oncogene in a near diploid HPV16-E6E7 gene immortalized human pancreatic duct epithelial cell line originally derived from normal pancreas induced the formation of carcinoma in 50% of severe combined immunodeficient mice implanted with these cells. 15958547

2005

dbSNP: rs1131691021
rs1131691021
0.020 GeneticVariation BEFREE We show here that the expression of K-ras(G12V) oncogene in a near diploid HPV16-E6E7 gene immortalized human pancreatic duct epithelial cell line originally derived from normal pancreas induced the formation of carcinoma in 50% of severe combined immunodeficient mice implanted with these cells. 15958547

2005

dbSNP: rs762846821
rs762846821
0.020 GeneticVariation BEFREE We show here that the expression of K-ras(G12V) oncogene in a near diploid HPV16-E6E7 gene immortalized human pancreatic duct epithelial cell line originally derived from normal pancreas induced the formation of carcinoma in 50% of severe combined immunodeficient mice implanted with these cells. 15958547

2005

dbSNP: rs1444669684
rs1444669684
0.010 GeneticVariation BEFREE We show here that the expression of K-ras(G12V) oncogene in a near diploid HPV16-E6E7 gene immortalized human pancreatic duct epithelial cell line originally derived from normal pancreas induced the formation of carcinoma in 50% of severe combined immunodeficient mice implanted with these cells. 15958547

2005

dbSNP: rs1131691021
rs1131691021
0.020 GeneticVariation BEFREE In contrast, the combination of p53 RNAi knockdown with expression of oncogenic H-Ras(G12V) transformed the p16-deficient BAR-T cells, as evidenced by their loss of contact inhibition, by their formation of colonies in soft agar, and by their generation of tumors in immunodeficient mice. 20927195

2010

dbSNP: rs762846821
rs762846821
0.020 GeneticVariation BEFREE In contrast, the combination of p53 RNAi knockdown with expression of oncogenic H-Ras(G12V) transformed the p16-deficient BAR-T cells, as evidenced by their loss of contact inhibition, by their formation of colonies in soft agar, and by their generation of tumors in immunodeficient mice. 20927195

2010

dbSNP: rs121913237
rs121913237
0.010 GeneticVariation BEFREE Enhanced engraftment of AE/N-Ras(G12D) cells was observed on intrafemoral injection into immunodeficient mice, presumably because of improved survival in the bone marrow microenvironment. 21200020

2011

dbSNP: rs1482518887
rs1482518887
0.010 GeneticVariation BEFREE Enhanced engraftment of AE/N-Ras(G12D) cells was observed on intrafemoral injection into immunodeficient mice, presumably because of improved survival in the bone marrow microenvironment. 21200020

2011

dbSNP: rs746540053
rs746540053
0.010 GeneticVariation BEFREE Enhanced engraftment of AE/N-Ras(G12D) cells was observed on intrafemoral injection into immunodeficient mice, presumably because of improved survival in the bone marrow microenvironment. 21200020

2011

dbSNP: rs778036161
rs778036161
0.010 GeneticVariation BEFREE Enhanced engraftment of AE/N-Ras(G12D) cells was observed on intrafemoral injection into immunodeficient mice, presumably because of improved survival in the bone marrow microenvironment. 21200020

2011

dbSNP: rs121912438
rs121912438
0.010 GeneticVariation BEFREE Previously, we established that facial MN (FMN) survival levels in the SOD1(G93A) transgenic mouse model of ALS are reduced and nerve regeneration is delayed, similar to immunodeficient RAG2(-/-) mice, after facial nerve axotomy. 24911596

2014

dbSNP: rs121913529
rs121913529
0.030 GeneticVariation BEFREE Here we present the first formal evidence of the shared and independent ability of basal cells and luminal progenitors, isolated from normal human mammary tissue and transduced with a single oncogene (KRAS(G12D)), to produce serially transplantable, polyclonal, invasive ductal carcinomas within 8 weeks of being introduced either subrenally or subcutaneously into immunodeficient mice. 26633636

2015

dbSNP: rs121434592
rs121434592
0.010 GeneticVariation BEFREE Expression of exogenous copies of AKT1(E17K) in MCF10A breast epithelial cells increased phosphorylation of AKT and its substrates, induced colony formation in soft agar, and formation of lesions in the mammary fat pad of immunodeficient mice. 26351323

2015

dbSNP: rs121913529
rs121913529
0.030 GeneticVariation BEFREE Intrabone marrow transplantation into immunodeficient mice further showed that MA4 and KRAS(G12V) alone or in combination enhanced hematopoietic repopulation without impairing myeloid-lymphoid differentiation, and that mutated KRAS did not cooperate with MA4 to initiate leukemia. 26837759

2016