LAMA5, laminin subunit alpha 5, 3911

N. diseases: 56; N. variants: 9
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: rs4925386
rs4925386 		0.776 0.080 20 62345988 intron variant T/C snv 0.56
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.830 1.000 3 2010 2018
dbSNP: rs1741640
rs1741640 		0.776 0.080 20 62357358 intron variant T/C snv 0.66
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.700 1.000 2 2019 2019
dbSNP: rs1741640
rs1741640 		0.776 0.080 20 62357358 intron variant T/C snv 0.66
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 2 2019 2019
dbSNP: rs1741640
rs1741640 		0.776 0.080 20 62357358 intron variant T/C snv 0.66
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 1.000 2 2019 2019
dbSNP: rs1741640
rs1741640 		0.776 0.080 20 62357358 intron variant T/C snv 0.66
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 2 2019 2019
dbSNP: rs1741640
rs1741640 		0.776 0.080 20 62357358 intron variant T/C snv 0.66
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.700 1.000 2 2019 2019
dbSNP: rs1741640
rs1741640 		0.776 0.080 20 62357358 intron variant T/C snv 0.66
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		0.700 1.000 2 2019 2019
dbSNP: rs1741640
rs1741640 		0.776 0.080 20 62357358 intron variant T/C snv 0.66
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 2 2019 2019
dbSNP: rs1741640
rs1741640 		0.776 0.080 20 62357358 intron variant T/C snv 0.66
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 2 2019 2019
dbSNP: rs1741640
rs1741640 		0.776 0.080 20 62357358 intron variant T/C snv 0.66
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 2 2019 2019
dbSNP: rs1741640
rs1741640 		0.776 0.080 20 62357358 intron variant T/C snv 0.66
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs2236521
rs2236521 		20 62317060 intron variant G/A snv 0.54 0.44
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs4925386
rs4925386 		0.776 0.080 20 62345988 intron variant T/C snv 0.56
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2010 2010
dbSNP: rs4925386
rs4925386 		0.776 0.080 20 62345988 intron variant T/C snv 0.56
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2010 2010
dbSNP: rs4925386
rs4925386 		0.776 0.080 20 62345988 intron variant T/C snv 0.56
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 1.000 1 2010 2010
dbSNP: rs4925386
rs4925386 		0.776 0.080 20 62345988 intron variant T/C snv 0.56
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2010 2010
dbSNP: rs4925386
rs4925386 		0.776 0.080 20 62345988 intron variant T/C snv 0.56
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2010 2010
dbSNP: rs4925386
rs4925386 		0.776 0.080 20 62345988 intron variant T/C snv 0.56
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2010 2010
dbSNP: rs4925386
rs4925386 		0.776 0.080 20 62345988 intron variant T/C snv 0.56
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.700 1.000 1 2010 2010
dbSNP: rs4925386
rs4925386 		0.776 0.080 20 62345988 intron variant T/C snv 0.56
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 1 2010 2010
dbSNP: rs62199218
rs62199218 		20 62357369 intron variant G/A snv 4.3E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs370433088
rs370433088 		20 62322314 missense variant C/T snv 1.0E-04 1.0E-04
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs756101090
rs756101090 		1.000 20 62330867 missense variant G/A snv 4.1E-05 8.4E-05
CUI: C1305904
Disease: Familial hematuria
Familial hematuria 		0.700 0
dbSNP: rs766464011
rs766464011 		20 62333128 missense variant G/T snv 1.1E-04 5.6E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0
dbSNP: rs773956500
rs773956500 		20 62322722 missense variant T/C snv 4.3E-05 2.9E-05
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0