SMAD6, SMAD family member 6, 4091

N. diseases: 93; N. variants: 26
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs4776316
rs4776316 		0.790 0.080 15 66715475 intron variant A/G snv 0.26
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs570279865
rs570279865 		1.000 15 66711709 stop gained G/A;T snv 3.2E-05 3.5E-05
CUI: C4479496
Disease: CRANIOSYNOSTOSIS 7
CRANIOSYNOSTOSIS 7 		0.700 1.000 1 2016 2016
dbSNP: rs6494597
rs6494597 		15 66734964 intron variant A/G snv 0.54
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs761888345
rs761888345 		1.000 15 66781437 missense variant C/T snv 5.6E-05 1.4E-05
CUI: C4479496
Disease: CRANIOSYNOSTOSIS 7
CRANIOSYNOSTOSIS 7 		0.700 1.000 1 2016 2016
dbSNP: rs76912608
rs76912608 		15 66706519 non coding transcript exon variant C/T snv 0.24
CUI: C1261502
Disease: Finding of Mean Corpuscular Hemoglobin
Finding of Mean Corpuscular Hemoglobin 		0.700 1.000 1 2019 2019
dbSNP: rs8040232
rs8040232 		15 66752605 intron variant T/A;C snv
CUI: C0014772
Disease: Red Blood Cell Count measurement
Red Blood Cell Count measurement 		0.700 1.000 1 2019 2019
dbSNP: rs1064793003
rs1064793003 		15 66703925 stop gained C/T snv 7.0E-06
CUI: C4479677
Disease: CRANIOSYNOSTOSIS 7, SUSCEPTIBILITY TO
CRANIOSYNOSTOSIS 7, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs1085307122
rs1085307122 		15 66781078 frameshift variant G/- del
CUI: C4479677
Disease: CRANIOSYNOSTOSIS 7, SUSCEPTIBILITY TO
CRANIOSYNOSTOSIS 7, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs1246889300
rs1246889300 		0.925 0.080 15 66703300 stop gained G/A;C;T snv 9.7E-06
CUI: C3542024
Disease: AORTIC VALVE DISEASE 2
AORTIC VALVE DISEASE 2 		0.700 0
dbSNP: rs1246889300
rs1246889300 		0.925 0.080 15 66703300 stop gained G/A;C;T snv 9.7E-06
CUI: C3887892
Disease: Aortic Valve Disease 1
Aortic Valve Disease 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs1338294058
rs1338294058 		1.000 15 66781513 missense variant T/C snv
CUI: C4479496
Disease: CRANIOSYNOSTOSIS 7
CRANIOSYNOSTOSIS 7 		0.700 0
dbSNP: rs1374099442
rs1374099442 		1.000 15 66781012 missense variant C/T snv 1.0E-05 2.8E-05
CUI: C4479496
Disease: CRANIOSYNOSTOSIS 7
CRANIOSYNOSTOSIS 7 		0.700 0
dbSNP: rs1395007983
rs1395007983 		1.000 0.080 15 66703949 missense variant C/A;G;T snv
CUI: C3887892
Disease: Aortic Valve Disease 1
Aortic Valve Disease 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs1419095990
rs1419095990 		1.000 0.080 15 66703950 missense variant G/A;C snv 7.0E-06
CUI: C3887892
Disease: Aortic Valve Disease 1
Aortic Valve Disease 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs1567092020
rs1567092020 		1.000 0.080 15 66704028 missense variant C/T snv
CUI: C3887892
Disease: Aortic Valve Disease 1
Aortic Valve Disease 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs1567092071
rs1567092071 		0.925 0.080 15 66704052 frameshift variant A/- del
CUI: C3887892
Disease: Aortic Valve Disease 1
Aortic Valve Disease 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs1567092071
rs1567092071 		0.925 0.080 15 66704052 frameshift variant A/- del
CUI: C3542024
Disease: AORTIC VALVE DISEASE 2
AORTIC VALVE DISEASE 2 		0.700 0
dbSNP: rs761888345
rs761888345 		1.000 15 66781437 missense variant C/T snv 5.6E-05 1.4E-05
CUI: C4479677
Disease: CRANIOSYNOSTOSIS 7, SUSCEPTIBILITY TO
CRANIOSYNOSTOSIS 7, SUSCEPTIBILITY TO 		0.700 0
dbSNP: rs768542939
rs768542939 		1.000 0.080 15 66703869 missense variant G/A;C snv
CUI: C3887892
Disease: Aortic Valve Disease 1
Aortic Valve Disease 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs900988907
rs900988907 		1.000 0.080 15 66781048 missense variant C/A;G snv
CUI: C3887892
Disease: Aortic Valve Disease 1
Aortic Valve Disease 1 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases 0.700 0
dbSNP: rs12913975
rs12913975 		0.925 0.160 15 66764823 intron variant G/A snv 0.17
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		Neoplasms; Respiratory Tract Diseases 0.010 1.000 1 2012 2012
dbSNP: rs12913975
rs12913975 		0.925 0.160 15 66764823 intron variant G/A snv 0.17
CUI: C0220650
Disease: Metastatic malignant neoplasm to brain
Metastatic malignant neoplasm to brain 		Pathological Conditions, Signs and Symptoms; Neoplasms; Nervous System Diseases 0.010 1.000 1 2012 2012