LAMC1, laminin subunit gamma 1, 3915

N. diseases: 57; N. variants: 17
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: rs10911193
rs10911193 		1.000 0.040 1 183021513 upstream gene variant C/T snv 0.11
CUI: C0033377
Disease: Ptosis
Ptosis 		Pathological Conditions, Signs and Symptoms 0.010 < 0.001 1 2012 2012
dbSNP: rs6695837
rs6695837 		0.925 0.080 1 183022327 upstream gene variant T/C snv 0.49
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs6695837
rs6695837 		0.925 0.080 1 183022327 upstream gene variant T/C snv 0.49
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.010 1.000 1 2017 2017
dbSNP: rs10797816
rs10797816 		1 183029351 intron variant A/T snv 0.54
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs6678517
rs6678517 		0.776 0.080 1 183033504 intron variant A/G;T snv
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 1.000 1 2019 2019
dbSNP: rs6678517
rs6678517 		0.776 0.080 1 183033504 intron variant A/G;T snv
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: rs6678517
rs6678517 		0.776 0.080 1 183033504 intron variant A/G;T snv
CUI: C1302401
Disease: Adenoma of large intestine
Adenoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs6678517
rs6678517 		0.776 0.080 1 183033504 intron variant A/G;T snv
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs6678517
rs6678517 		0.776 0.080 1 183033504 intron variant A/G;T snv
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.700 1.000 1 2019 2019
dbSNP: rs6678517
rs6678517 		0.776 0.080 1 183033504 intron variant A/G;T snv
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 1 2019 2019
dbSNP: rs6678517
rs6678517 		0.776 0.080 1 183033504 intron variant A/G;T snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs6678517
rs6678517 		0.776 0.080 1 183033504 intron variant A/G;T snv
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs6678517
rs6678517 		0.776 0.080 1 183033504 intron variant A/G;T snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs6678517
rs6678517 		0.776 0.080 1 183033504 intron variant A/G;T snv
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2019 2019
dbSNP: rs4129858
rs4129858 		1 183035199 intron variant A/G snv 0.38
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs10911205
rs10911205 		1 183040142 intron variant C/A snv 0.33
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		Nutritional and Metabolic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs10911212
rs10911212 		1 183055334 intron variant C/G;T snv
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs4546885
rs4546885 		0.790 0.080 1 183056420 intron variant G/A;C snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs4546885
rs4546885 		0.790 0.080 1 183056420 intron variant G/A;C snv
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: rs4546885
rs4546885 		0.790 0.080 1 183056420 intron variant G/A;C snv
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.700 1.000 1 2019 2019
dbSNP: rs4546885
rs4546885 		0.790 0.080 1 183056420 intron variant G/A;C snv
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 1 2019 2019
dbSNP: rs4546885
rs4546885 		0.790 0.080 1 183056420 intron variant G/A;C snv
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs4546885
rs4546885 		0.790 0.080 1 183056420 intron variant G/A;C snv
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs4546885
rs4546885 		0.790 0.080 1 183056420 intron variant G/A;C snv
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 1.000 1 2019 2019
dbSNP: rs4546885
rs4546885 		0.790 0.080 1 183056420 intron variant G/A;C snv
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2019 2019