CCDC6, coiled-coil domain containing 6, 8030

N. diseases: 156; N. variants: 6
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1177701
rs1177701
Entrez Id: 8030
Gene Symbol: CCDC6
CCDC6
CUI: C0871470
Disease:
Systolic Pressure 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs16914105
rs16914105
Entrez Id: 8030
Gene Symbol: CCDC6
CCDC6
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		C 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs2271564
rs2271564
Entrez Id: 8030
Gene Symbol: CCDC6
CCDC6
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		A 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs2440907
rs2440907
Entrez Id: 8030
Gene Symbol: CCDC6
CCDC6
CUI: C0871470
Disease:
Systolic Pressure 		G 0.700 GeneticVariation GWASCAT Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. 27841878 2017
dbSNP: rs7917618
rs7917618
Entrez Id: 8030
Gene Symbol: CCDC6
CCDC6
CUI: C0023467
Disease:
Leukemia, Myelocytic, Acute 		G 0.700 GeneticVariation GWASCAT Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia. 27903959 2017
dbSNP: rs747463591
rs747463591
Entrez Id: 8030
Gene Symbol: CCDC6
CCDC6
CUI: C0549473
Disease:
Thyroid carcinoma 		0.010 GeneticVariation BEFREE Here, we show that depletion of RAF-1, a RAF family member with a poorly defined role in TC, decreases proliferation and increases apoptosis in TPC-1 cells and, less significantly, in cells harboring a BRAF(V600E) or HRAS(G13R) mutations, but without affecting ERK activation. 26265449 2015
dbSNP: rs747463591
rs747463591
Entrez Id: 8030
Gene Symbol: CCDC6
CCDC6
CUI: C0040136
Disease:
Thyroid Neoplasm 		0.010 GeneticVariation BEFREE Here, we show that depletion of RAF-1, a RAF family member with a poorly defined role in TC, decreases proliferation and increases apoptosis in TPC-1 cells and, less significantly, in cells harboring a BRAF(V600E) or HRAS(G13R) mutations, but without affecting ERK activation. 26265449 2015
dbSNP: rs747463591
rs747463591
Entrez Id: 8030
Gene Symbol: CCDC6
CCDC6
CUI: C0007115
Disease:
Malignant neoplasm of thyroid 		0.010 GeneticVariation BEFREE Here, we show that depletion of RAF-1, a RAF family member with a poorly defined role in TC, decreases proliferation and increases apoptosis in TPC-1 cells and, less significantly, in cells harboring a BRAF(V600E) or HRAS(G13R) mutations, but without affecting ERK activation. 26265449 2015