Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1470692239
rs1470692239
Entrez Id: 26038
Gene Symbol: CHD5
CHD5
CUI: C0006142
Disease:
Malignant neoplasm of breast
0.700 GeneticVariation UNIPROT
dbSNP: rs11121295
rs11121295
Entrez Id: 26038;105376687
Gene Symbol: CHD5;LOC105376687
CHD5;LOC105376687
CUI: C0002395
Disease:
Alzheimer's Disease
0.010 GeneticVariation BEFREE We found intronic rs11121295 was associated with the risk of Alzheimer's disease at both stages including combined cohorts. 29861839 2018
dbSNP: rs12564469
rs12564469
Entrez Id: 26038
Gene Symbol: CHD5
CHD5
CUI: C2239176
Disease:
Liver carcinoma
0.010 GeneticVariation BEFREE We discovered a rare variant (haplotype AG) in CHD5 (rs12564469-rs9434711) that was markedly associated with the risk of HCC in a Chinese population. 29907144 2018
dbSNP: rs9434711
rs9434711
Entrez Id: 26038
Gene Symbol: CHD5
CHD5
CUI: C2239176
Disease:
Liver carcinoma
0.010 GeneticVariation BEFREE We discovered a rare variant (haplotype AG) in CHD5 (rs12564469-rs9434711) that was markedly associated with the risk of HCC in a Chinese population. 29907144 2018
dbSNP: rs9434741
rs9434741
Entrez Id: 26038
Gene Symbol: CHD5
CHD5
CUI: C0014175
Disease:
Endometriosis
0.010 GeneticVariation BEFREE After correction for multiple comparisons, rs9434741 (CHD5) remained significantly associated with endometriosis (p<0.01). 22910690 2012
dbSNP: rs138962606
rs138962606
Entrez Id: 26038
Gene Symbol: CHD5
CHD5
CUI: C1708565
Disease:
Invasive Cutaneous Melanoma
0.010 GeneticVariation BEFREE A p.Met1576Ile substitution was identified in a mother and daughter, both with invasive cutaneous melanoma. 21250965 2011
dbSNP: rs7513548
rs7513548
Entrez Id: 26038
Gene Symbol: CHD5
CHD5
CUI: C0025202
Disease:
melanoma
0.010 GeneticVariation BEFREE On SNP genotyping, the CHD5 rs7513548 SNP was found to be significantly associated with sporadic melanoma (odds ratio 1·53, 95% confidence interval 1·13-2·06). 21250965 2011