Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1162844242
rs1162844242
CUI: C0020981
Disease: Angioimmunoblastic Lymphadenopathy
Angioimmunoblastic Lymphadenopathy
0.010 GeneticVariation BEFREE They include the V600E BRAF mutation in hairy cell leukemia, the L265P MYD88 mutation in Waldenström macroglobulinemia, the G17V RHOA mutation in angioimmunoblastic T-cell lymphoma and peripheral T-cell lymphoma, not otherwise specified, and the Y640F//D661Y/V/H/I//N647I STAT3 mutations in T-cell large granular lymphocytic leukemia. 24689848

2014

dbSNP: rs1162844242
rs1162844242
CUI: C0079774
Disease: Peripheral T-Cell Lymphoma
Peripheral T-Cell Lymphoma
0.010 GeneticVariation BEFREE They include the V600E BRAF mutation in hairy cell leukemia, the L265P MYD88 mutation in Waldenström macroglobulinemia, the G17V RHOA mutation in angioimmunoblastic T-cell lymphoma and peripheral T-cell lymphoma, not otherwise specified, and the Y640F//D661Y/V/H/I//N647I STAT3 mutations in T-cell large granular lymphocytic leukemia. 24689848

2014

dbSNP: rs4988453
rs4988453
CUI: C0041327
Disease: Tuberculosis, Pulmonary
Tuberculosis, Pulmonary
0.010 GeneticVariation BEFREE SNPs TLR9 rs352139, TLR2 rs3804099 and MYD88 rs4988453 were associated with PTB in females (OR = 0.49, p = 0.0009; OR = 0.51, p = 0.0008; OR = 0.33, p = 0.027; here and below log-additive model with minor alleles assumed as effect associated alleles), while SNP TLR8 rs3764880 showed a significant association in males (OR = 0.44, p = 0.0087). 30529560

2019

dbSNP: rs4988453
rs4988453
CUI: C0036202
Disease: Sarcoidosis
Sarcoidosis
0.010 GeneticVariation BEFREE We analyzed a total of 93 cases with sarcoidosis and of 89 controls for the most common MyD88 SNPs: -938C>A (rs4988453) and 1944C>G (rs4988457). 23666053

2013

dbSNP: rs4988453
rs4988453
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma
0.010 GeneticVariation BEFREE MYD88 rs4988453, a SNP that maps to a promoter region shared with the acetyl coenzyme-A acyl-transferase-1 (ACAA1), was associated with decreased survival of patients with colorectal cancer and altered transcriptional activity of the proximal genes. 24154872

2013

dbSNP: rs4988453
rs4988453
Malignant neoplasm of colon and/or rectum
0.010 GeneticVariation BEFREE MYD88 rs4988453, a SNP that maps to a promoter region shared with the acetyl coenzyme-A acyl-transferase-1 (ACAA1), was associated with decreased survival of patients with colorectal cancer and altered transcriptional activity of the proximal genes. 24154872

2013