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: rs387907283
rs387907283 		1.000 15 66781495 missense variant G/A;T snv 4.7E-06; 4.7E-06 7.0E-06
CUI: C3542024
Disease: AORTIC VALVE DISEASE 2
AORTIC VALVE DISEASE 2 		0.800 0
dbSNP: rs387907284
rs387907284 		1.000 15 66781288 missense variant C/G;T snv 8.6E-06
CUI: C3542024
Disease: AORTIC VALVE DISEASE 2
AORTIC VALVE DISEASE 2 		0.800 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: 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: 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: rs1866745
rs1866745 		1.000 0.080 15 66742474 intron variant G/A snv 0.41
CUI: C0007286
Disease: Carpal Tunnel Syndrome
Carpal Tunnel Syndrome 		Nervous System Diseases; Wounds and Injuries 0.700 1.000 1 2019 2019
dbSNP: rs2119260
rs2119260 		15 66719608 intron variant T/A;C;G snv
CUI: C0205682
Disease: Waist-Hip Ratio
Waist-Hip Ratio 		0.700 1.000 1 2019 2019
dbSNP: rs3809570
rs3809570 		15 66707779 non coding transcript exon variant C/A;T snv 0.22
CUI: C0424678
Disease: Lean body mass
Lean body mass 		0.700 1.000 1 2019 2019
dbSNP: rs4776316
rs4776316 		0.790 0.080 15 66715475 intron variant A/G snv 0.26
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 1.000 1 2019 2019
dbSNP: rs4776316
rs4776316 		0.790 0.080 15 66715475 intron variant A/G snv 0.26
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 1 2019 2019
dbSNP: rs4776316
rs4776316 		0.790 0.080 15 66715475 intron variant A/G snv 0.26
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs4776316
rs4776316 		0.790 0.080 15 66715475 intron variant A/G snv 0.26
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs4776316
rs4776316 		0.790 0.080 15 66715475 intron variant A/G snv 0.26
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs4776316
rs4776316 		0.790 0.080 15 66715475 intron variant A/G snv 0.26
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2019 2019
dbSNP: rs4776316
rs4776316 		0.790 0.080 15 66715475 intron variant A/G snv 0.26
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: rs4776316
rs4776316 		0.790 0.080 15 66715475 intron variant A/G snv 0.26
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.700 1.000 1 2019 2019