rs121918359
×
Entrez Id:
4093
Gene Symbol:
SMAD9
SMAD9
PULMONARY HYPERTENSION, PRIMARY, 2
T
0.700
CausalMutation
CLINVAR
rs121918359
×
Entrez Id:
4093
Gene Symbol:
SMAD9
SMAD9
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
rs12427600
×
Entrez Id:
4093
Gene Symbol:
SMAD9
SMAD9
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
C
0.700
GeneticVariation
GWASCAT
Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
31089142
2019
rs12427600
×
Entrez Id:
4093
Gene Symbol:
SMAD9
SMAD9
Adenocarcinoma of large intestine
C
0.700
GeneticVariation
GWASCAT
Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
31089142
2019
rs12427600
×
Entrez Id:
4093
Gene Symbol:
SMAD9
SMAD9
Malignant tumor of colon
C
0.700
GeneticVariation
GWASCAT
Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
31089142
2019
rs12427600
×
Entrez Id:
4093
Gene Symbol:
SMAD9
SMAD9
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
C
0.700
GeneticVariation
GWASCAT
Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
31089142
2019
rs12427600
×
Entrez Id:
4093
Gene Symbol:
SMAD9
SMAD9
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
C
0.700
GeneticVariation
GWASCAT
Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
31089142
2019
rs12427600
×
Entrez Id:
4093
Gene Symbol:
SMAD9
SMAD9
Colorectal Neoplasms
C
0.700
GeneticVariation
GWASCAT
Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
31089142
2019
rs12427600
×
Entrez Id:
4093
Gene Symbol:
SMAD9
SMAD9
Malignant neoplasm of large intestine
C
0.700
GeneticVariation
GWASCAT
Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
31089142
2019
rs12427600
×
Entrez Id:
4093
Gene Symbol:
SMAD9
SMAD9
Colorectal Carcinoma
C
0.700
GeneticVariation
GWASCAT
Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
31089142
2019
rs12427600
×
Entrez Id:
4093
Gene Symbol:
SMAD9
SMAD9
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
C
0.700
GeneticVariation
GWASCAT
Association analyses identify 31 new risk loci for colorectal cancer susceptibility.
31089142
2019
rs146583835
×
Entrez Id:
4093
Gene Symbol:
SMAD9
SMAD9
Pulmonary arterial hypertension associated with congenital heart disease
T
0.700
GeneticVariation
CLINVAR
Rare variants in SOX17 are associated with pulmonary arterial hypertension with congenital heart disease.
30029678
2018
rs371433324
×
Entrez Id:
4093
Gene Symbol:
SMAD9
SMAD9
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
rs371433324
×
Entrez Id:
4093
Gene Symbol:
SMAD9
SMAD9
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
rs371433324
×
Entrez Id:
4093
Gene Symbol:
SMAD9
SMAD9
Penile 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
rs397514715
×
Entrez Id:
4093
Gene Symbol:
SMAD9
SMAD9
PULMONARY HYPERTENSION, PRIMARY, 2
0.800
GeneticVariation
UNIPROT
Molecular genetic characterization of SMAD signaling molecules in pulmonary arterial hypertension.
21898662
2011
rs397514715
×
Entrez Id:
4093
Gene Symbol:
SMAD9
SMAD9
PULMONARY HYPERTENSION, PRIMARY, 2
C
0.800
CausalMutation
CLINVAR
rs397514716
×
Entrez Id:
4093
Gene Symbol:
SMAD9
SMAD9
PULMONARY HYPERTENSION, PRIMARY, 2
A
0.700
CausalMutation
CLINVAR
rs397514716
×
Entrez Id:
4093
Gene Symbol:
SMAD9
SMAD9
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 mo del (adjusted OR = 1.803, 95 % CI: 1.470-1.983, <i>P</i><0.001).
30617053
2019
rs556429
×
Entrez Id:
4093
Gene Symbol:
SMAD9
SMAD9
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
rs7333607
×
Entrez Id:
4093
Gene Symbol:
SMAD9
SMAD9
Malignant neoplasm of large intestine
G
0.700
GeneticVariation
GWASCAT
Discovery of common and rare genetic risk variants for colorectal cancer.
30510241
2019
rs7333607
×
Entrez Id:
4093
Gene Symbol:
SMAD9
SMAD9
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
G
0.700
GeneticVariation
GWASCAT
Discovery of common and rare genetic risk variants for colorectal cancer.
30510241
2019
rs7333607
×
Entrez Id:
4093
Gene Symbol:
SMAD9
SMAD9
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
G
0.700
GeneticVariation
GWASCAT
Discovery of common and rare genetic risk variants for colorectal cancer.
30510241
2019
rs7333607
×
Entrez Id:
4093
Gene Symbol:
SMAD9
SMAD9
Adenocarcinoma of large intestine
G
0.700
GeneticVariation
GWASCAT
Discovery of common and rare genetic risk variants for colorectal cancer.
30510241
2019
rs7333607
×
Entrez Id:
4093
Gene Symbol:
SMAD9
SMAD9
Colorectal Carcinoma
G
0.700
GeneticVariation
GWASCAT
Discovery of common and rare genetic risk variants for colorectal cancer.
30510241
2019