SMAD9, SMAD family member 9, 4093

N. diseases: 43; N. variants: 10
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: rs397514715
rs397514715 		1.000 13 36879563 missense variant T/C snv 1.0E-04 2.8E-05
CUI: C3888002
Disease: PULMONARY HYPERTENSION, PRIMARY, 2
PULMONARY HYPERTENSION, PRIMARY, 2 		0.800 1.000 1 2011 2011
dbSNP: rs12427600
rs12427600 		0.790 0.080 13 36886511 intron variant T/C 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: rs12427600
rs12427600 		0.790 0.080 13 36886511 intron variant T/C snv 0.23
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs12427600
rs12427600 		0.790 0.080 13 36886511 intron variant T/C 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: rs12427600
rs12427600 		0.790 0.080 13 36886511 intron variant T/C 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: rs12427600
rs12427600 		0.790 0.080 13 36886511 intron variant T/C snv 0.23
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.700 1.000 1 2019 2019
dbSNP: rs12427600
rs12427600 		0.790 0.080 13 36886511 intron variant T/C snv 0.23
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2019 2019
dbSNP: rs12427600
rs12427600 		0.790 0.080 13 36886511 intron variant T/C snv 0.23
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 1 2019 2019
dbSNP: rs12427600
rs12427600 		0.790 0.080 13 36886511 intron variant T/C snv 0.23
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs12427600
rs12427600 		0.790 0.080 13 36886511 intron variant T/C snv 0.23
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 1.000 1 2019 2019
dbSNP: rs146583835
rs146583835 		1.000 13 36879486 stop gained G/A;T snv 2.0E-05
CUI: C3697119
Disease: Pulmonary arterial hypertension associated with congenital heart disease
Pulmonary arterial hypertension associated with congenital heart disease 		0.700 1.000 1 2018 2018
dbSNP: rs556429
rs556429 		13 36912884 intron variant C/A snv 0.19
CUI: C0005938
Disease: Bone Density
Bone Density 		0.700 1.000 1 2018 2018
dbSNP: rs7333607
rs7333607 		0.776 0.080 13 36887873 intron variant A/G snv 0.24
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2019 2019
dbSNP: rs7333607
rs7333607 		0.776 0.080 13 36887873 intron variant A/G snv 0.24
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs7333607
rs7333607 		0.776 0.080 13 36887873 intron variant A/G snv 0.24
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: rs7333607
rs7333607 		0.776 0.080 13 36887873 intron variant A/G snv 0.24
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs7333607
rs7333607 		0.776 0.080 13 36887873 intron variant A/G snv 0.24
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 1 2019 2019
dbSNP: rs7333607
rs7333607 		0.776 0.080 13 36887873 intron variant A/G snv 0.24
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs7333607
rs7333607 		0.776 0.080 13 36887873 intron variant A/G snv 0.24
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs7333607
rs7333607 		0.776 0.080 13 36887873 intron variant A/G snv 0.24
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.700 1.000 1 2019 2019
dbSNP: rs7333607
rs7333607 		0.776 0.080 13 36887873 intron variant A/G snv 0.24
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 1.000 1 2019 2019
dbSNP: rs7333607
rs7333607 		0.776 0.080 13 36887873 intron variant A/G snv 0.24
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs9576132
rs9576132 		13 36906064 intron variant T/C snv 0.25
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs121918359
rs121918359 		0.925 0.040 13 36872722 stop gained G/A;T snv 2.4E-05
CUI: C3888002
Disease: PULMONARY HYPERTENSION, PRIMARY, 2
PULMONARY HYPERTENSION, PRIMARY, 2 		0.700 0
dbSNP: rs397514716
rs397514716 		0.925 0.040 13 36865660 stop gained G/A snv 4.0E-06 1.4E-05
CUI: C3888002
Disease: PULMONARY HYPERTENSION, PRIMARY, 2
PULMONARY HYPERTENSION, PRIMARY, 2 		0.700 0