SMAD9, SMAD family member 9, 4093

N. diseases: 43; N. variants: 10
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs12427600
rs12427600
Entrez Id: 4093
Gene Symbol: SMAD9
SMAD9
CUI: C1319315
Disease:
Adenocarcinoma of large intestine 		C 0.700 GeneticVariation GWASCAT Association analyses identify 31 new risk loci for colorectal cancer susceptibility. 31089142 2019
dbSNP: rs7333607
rs7333607
Entrez Id: 4093
Gene Symbol: SMAD9
SMAD9
CUI: C1319315
Disease:
Adenocarcinoma of large intestine 		G 0.700 GeneticVariation GWASCAT Discovery of common and rare genetic risk variants for colorectal cancer. 30510241 2019
dbSNP: rs7333607
rs7333607
Entrez Id: 4093
Gene Symbol: SMAD9
SMAD9
CUI: C1302401
Disease:
Adenoma of large intestine 		G 0.700 GeneticVariation GWASCAT Discovery of common and rare genetic risk variants for colorectal cancer. 30510241 2019
dbSNP: rs9576132
rs9576132
Entrez Id: 4093
Gene Symbol: SMAD9
SMAD9
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs556429
rs556429
Entrez Id: 4093
Gene Symbol: SMAD9
SMAD9
CUI: C0005938
Disease:
Bone Density 		A 0.700 GeneticVariation GWASCAT Life-Course Genome-wide Association Study Meta-analysis of Total Body BMD and Assessment of Age-Specific Effects. 29304378 2018
dbSNP: rs12427600
rs12427600
Entrez Id: 4093
Gene Symbol: SMAD9
SMAD9
CUI: C1837315
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		C 0.700 GeneticVariation GWASCAT Association analyses identify 31 new risk loci for colorectal cancer susceptibility. 31089142 2019
dbSNP: rs7333607
rs7333607
Entrez Id: 4093
Gene Symbol: SMAD9
SMAD9
CUI: C1837315
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		G 0.700 GeneticVariation GWASCAT Discovery of common and rare genetic risk variants for colorectal cancer. 30510241 2019
dbSNP: rs12427600
rs12427600
Entrez Id: 4093
Gene Symbol: SMAD9
SMAD9
CUI: C2675481
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		C 0.700 GeneticVariation GWASCAT Association analyses identify 31 new risk loci for colorectal cancer susceptibility. 31089142 2019
dbSNP: rs7333607
rs7333607
Entrez Id: 4093
Gene Symbol: SMAD9
SMAD9
CUI: C2675481
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		G 0.700 GeneticVariation GWASCAT Discovery of common and rare genetic risk variants for colorectal cancer. 30510241 2019
dbSNP: rs12427600
rs12427600
Entrez Id: 4093
Gene Symbol: SMAD9
SMAD9
CUI: C3554460
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		C 0.700 GeneticVariation GWASCAT Association analyses identify 31 new risk loci for colorectal cancer susceptibility. 31089142 2019
dbSNP: rs7333607
rs7333607
Entrez Id: 4093
Gene Symbol: SMAD9
SMAD9
CUI: C3554460
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		G 0.700 GeneticVariation GWASCAT Discovery of common and rare genetic risk variants for colorectal cancer. 30510241 2019
dbSNP: rs12427600
rs12427600
Entrez Id: 4093
Gene Symbol: SMAD9
SMAD9
CUI: C2677123
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		C 0.700 GeneticVariation GWASCAT Association analyses identify 31 new risk loci for colorectal cancer susceptibility. 31089142 2019
dbSNP: rs7333607
rs7333607
Entrez Id: 4093
Gene Symbol: SMAD9
SMAD9
CUI: C2677123
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		G 0.700 GeneticVariation GWASCAT Discovery of common and rare genetic risk variants for colorectal cancer. 30510241 2019
dbSNP: rs12427600
rs12427600
Entrez Id: 4093
Gene Symbol: SMAD9
SMAD9
CUI: C0009402
Disease:
Colorectal Carcinoma 		C 0.700 GeneticVariation GWASCAT Association analyses identify 31 new risk loci for colorectal cancer susceptibility. 31089142 2019
dbSNP: rs7333607
rs7333607
Entrez Id: 4093
Gene Symbol: SMAD9
SMAD9
CUI: C0009402
Disease:
Colorectal Carcinoma 		G 0.700 GeneticVariation GWASCAT Discovery of common and rare genetic risk variants for colorectal cancer. 30510241 2019
dbSNP: rs12427600
rs12427600
Entrez Id: 4093
Gene Symbol: SMAD9
SMAD9
CUI: C0009404
Disease:
Colorectal Neoplasms 		C 0.700 GeneticVariation GWASCAT Association analyses identify 31 new risk loci for colorectal cancer susceptibility. 31089142 2019
dbSNP: rs7333607
rs7333607
Entrez Id: 4093
Gene Symbol: SMAD9
SMAD9
CUI: C0009404
Disease:
Colorectal Neoplasms 		G 0.700 GeneticVariation GWASCAT Discovery of common and rare genetic risk variants for colorectal cancer. 30510241 2019
dbSNP: rs121918359
rs121918359
Entrez Id: 4093
Gene Symbol: SMAD9
SMAD9
CUI: C0085580
Disease:
Essential Hypertension 		0.010 GeneticVariation BEFREE The CG haplotype of the rs6435156 and rs1048829 loci of the <i>BMPR2</i> gene, the CC haplotype of the <i>ACVRL1</i> gene rs121909287 and rs121909284 loci, and the CC haplotype of the rs397514716 and rs121918359 loci of the <i>SMAD9</i> gene were factors that protect against EH, whereas the TT haplotype of the rs6435156 and rs1048829 loci in the <i>BMPR2</i> gene was a risk factor for EH. 30617053 2019
dbSNP: rs397514716
rs397514716
Entrez Id: 4093
Gene Symbol: SMAD9
SMAD9
CUI: C0085580
Disease:
Essential Hypertension 		0.010 GeneticVariation BEFREE The risk of EH increased in the <i>SMAD9</i> gene rs397514716 locus dominant model (adjusted OR = 1.370, 95% CI: 1.183-1.559, <i>P</i><0.001) and recessive model (adjusted OR = 1.803, 95% CI: 1.470-1.983, <i>P</i><0.001). 30617053 2019
dbSNP: rs371433324
rs371433324
Entrez Id: 4093
Gene Symbol: SMAD9
SMAD9
CUI: C0848558
Disease:
Hypospadias 		0.010 GeneticVariation BEFREE The unique features of SRD5A2 defects were p.R246Q (most prevalent) and p.G196S could be mutational hotspots, dual gene defects (p.A596T in AR and p.G196S in SRD5A2) in a patient with hypospadias and novel 8 nucleotide deletion (exon 1) found in a patient with perineal hypospadias. 30550360 2019
dbSNP: rs371433324
rs371433324
Entrez Id: 4093
Gene Symbol: SMAD9
SMAD9
CUI: C0452148
Disease:
Hypospadias, perineal 		0.010 GeneticVariation BEFREE The unique features of SRD5A2 defects were p.R246Q (most prevalent) and p.G196S could be mutational hotspots, dual gene defects (p.A596T in AR and p.G196S in SRD5A2) in a patient with hypospadias and novel 8 nucleotide deletion (exon 1) found in a patient with perineal hypospadias. 30550360 2019
dbSNP: rs12427600
rs12427600
Entrez Id: 4093
Gene Symbol: SMAD9
SMAD9
CUI: C0346629
Disease:
Malignant neoplasm of large intestine 		C 0.700 GeneticVariation GWASCAT Association analyses identify 31 new risk loci for colorectal cancer susceptibility. 31089142 2019
dbSNP: rs7333607
rs7333607
Entrez Id: 4093
Gene Symbol: SMAD9
SMAD9
CUI: C0346629
Disease:
Malignant neoplasm of large intestine 		G 0.700 GeneticVariation GWASCAT Discovery of common and rare genetic risk variants for colorectal cancer. 30510241 2019
dbSNP: rs12427600
rs12427600
Entrez Id: 4093
Gene Symbol: SMAD9
SMAD9
CUI: C0007102
Disease:
Malignant tumor of colon 		C 0.700 GeneticVariation GWASCAT Association analyses identify 31 new risk loci for colorectal cancer susceptibility. 31089142 2019
dbSNP: rs7333607
rs7333607
Entrez Id: 4093
Gene Symbol: SMAD9
SMAD9
CUI: C0007102
Disease:
Malignant tumor of colon 		G 0.700 GeneticVariation GWASCAT Discovery of common and rare genetic risk variants for colorectal cancer. 30510241 2019