SMAD6, SMAD family member 6, 4091

N. diseases: 93; N. variants: 26
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs387907283
rs387907283
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6
CUI: C3542024
Disease:
AORTIC VALVE DISEASE 2 		0.800 GeneticVariation UNIPROT
dbSNP: rs387907284
rs387907284
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6
CUI: C3542024
Disease:
AORTIC VALVE DISEASE 2 		0.800 GeneticVariation UNIPROT
dbSNP: rs1338294058
rs1338294058
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6
CUI: C4479496
Disease:
CRANIOSYNOSTOSIS 7 		0.700 GeneticVariation UNIPROT
dbSNP: rs1374099442
rs1374099442
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6
CUI: C4479496
Disease:
CRANIOSYNOSTOSIS 7 		0.700 GeneticVariation UNIPROT
dbSNP: rs1440374
rs1440374
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6
CUI: C0042834
Disease:
Vital capacity 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs2119260
rs2119260
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6
CUI: C0205682
Disease:
Waist-Hip Ratio 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs3809570
rs3809570
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6
CUI: C0424678
Disease:
Lean body mass 		0.700 GeneticVariation GWASCAT Genomics of body fat percentage may contribute to sex bias in anorexia nervosa. 30593698 2019
dbSNP: rs570279865
rs570279865
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6
CUI: C4479496
Disease:
CRANIOSYNOSTOSIS 7 		0.700 GeneticVariation UNIPROT Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles. 27606499 2016
dbSNP: rs6494597
rs6494597
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6
CUI: C0005890
Disease:
Body Height 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs761888345
rs761888345
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6
CUI: C4479496
Disease:
CRANIOSYNOSTOSIS 7 		0.700 GeneticVariation UNIPROT Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles. 27606499 2016
dbSNP: rs76912608
rs76912608
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6
CUI: C1261502
Disease:
Finding of Mean Corpuscular Hemoglobin 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs8040232
rs8040232
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6
CUI: C0014772
Disease:
Red Blood Cell Count measurement 		0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
dbSNP: rs12913975
rs12913975
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6
CUI: C0007131
Disease:
Non-Small Cell Lung Carcinoma 		0.010 GeneticVariation BEFREE We found the GG genotype of SMAD6: rs12913975 and TT genotype of INHBC: rs4760259 to be associated with risk of brain metastasis in patients with NSCLC. 23284751 2012
dbSNP: rs12913975
rs12913975
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6
CUI: C0220650
Disease:
Metastatic malignant neoplasm to brain 		0.010 GeneticVariation BEFREE We found the GG genotype of SMAD6: rs12913975 and TT genotype of INHBC: rs4760259 to be associated with risk of brain metastasis in patients with NSCLC. 23284751 2012
dbSNP: rs1246889300
rs1246889300
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6
CUI: C3887892
Disease:
Aortic Valve Disease 1 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1246889300
rs1246889300
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6
CUI: C3542024
Disease:
AORTIC VALVE DISEASE 2 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1866745
rs1866745
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6
CUI: C0007286
Disease:
Carpal Tunnel Syndrome 		A 0.700 GeneticVariation GWASCAT A genome-wide association analysis identifies 16 novel susceptibility loci for carpal tunnel syndrome. 30833571 2019
dbSNP: rs4776316
rs4776316
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6
CUI: C2675481
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		A 0.700 GeneticVariation GWASCAT Association analyses identify 31 new risk loci for colorectal cancer susceptibility. 31089142 2019
dbSNP: rs4776316
rs4776316
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6
CUI: C0009402
Disease:
Colorectal Carcinoma 		A 0.700 GeneticVariation GWASCAT Association analyses identify 31 new risk loci for colorectal cancer susceptibility. 31089142 2019
dbSNP: rs4776316
rs4776316
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6
CUI: C3554460
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		A 0.700 GeneticVariation GWASCAT Association analyses identify 31 new risk loci for colorectal cancer susceptibility. 31089142 2019
dbSNP: rs4776316
rs4776316
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6
CUI: C1837315
Disease:
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		A 0.700 GeneticVariation GWASCAT Association analyses identify 31 new risk loci for colorectal cancer susceptibility. 31089142 2019
dbSNP: rs4776316
rs4776316
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6
CUI: C0007102
Disease:
Malignant tumor of colon 		A 0.700 GeneticVariation GWASCAT Association analyses identify 31 new risk loci for colorectal cancer susceptibility. 31089142 2019
dbSNP: rs4776316
rs4776316
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6
CUI: C1319315
Disease:
Adenocarcinoma of large intestine 		A 0.700 GeneticVariation GWASCAT Association analyses identify 31 new risk loci for colorectal cancer susceptibility. 31089142 2019
dbSNP: rs4776316
rs4776316
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6
CUI: C0346629
Disease:
Malignant neoplasm of large intestine 		A 0.700 GeneticVariation GWASCAT Association analyses identify 31 new risk loci for colorectal cancer susceptibility. 31089142 2019
dbSNP: rs4776316
rs4776316
Entrez Id: 4091
Gene Symbol: SMAD6
SMAD6
CUI: C0009404
Disease:
Colorectal Neoplasms 		A 0.700 GeneticVariation GWASCAT Association analyses identify 31 new risk loci for colorectal cancer susceptibility. 31089142 2019