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: 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: rs12594720
rs12594720 		0.776 0.080 15 66714680 intron variant C/G snv 0.23
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs12594720
rs12594720 		0.776 0.080 15 66714680 intron variant C/G snv 0.23
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs12594720
rs12594720 		0.776 0.080 15 66714680 intron variant C/G snv 0.23
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 1 2019 2019
dbSNP: rs12594720
rs12594720 		0.776 0.080 15 66714680 intron variant C/G snv 0.23
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs12594720
rs12594720 		0.776 0.080 15 66714680 intron variant C/G snv 0.23
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 1.000 1 2019 2019
dbSNP: rs12594720
rs12594720 		0.776 0.080 15 66714680 intron variant C/G snv 0.23
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2019 2019
dbSNP: rs12594720
rs12594720 		0.776 0.080 15 66714680 intron variant C/G snv 0.23
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs12594720
rs12594720 		0.776 0.080 15 66714680 intron variant C/G snv 0.23
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs12594720
rs12594720 		0.776 0.080 15 66714680 intron variant C/G snv 0.23
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs12594720
rs12594720 		0.776 0.080 15 66714680 intron variant C/G snv 0.23
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.700 1.000 1 2019 2019
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
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: rs1440372
rs1440372 		15 66740813 non coding transcript exon variant T/C snv 0.78
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 3 2015 2019
dbSNP: rs1440374
rs1440374 		15 66743724 intron variant T/C snv 0.20
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2019 2019
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