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: rs1062044
rs1062044 		1.000 0.080 1 183143277 3 prime UTR variant A/G snv 0.53
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2017 2017
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: rs20558
rs20558 		0.925 0.080 1 183125412 missense variant T/C snv 0.58 0.51
CUI: C0025322
Disease: Premature Menopause
Premature Menopause 		Female Urogenital Diseases and Pregnancy Complications 0.010 1.000 1 2012 2012
dbSNP: rs20558
rs20558 		0.925 0.080 1 183125412 missense variant T/C snv 0.58 0.51
CUI: C0085215
Disease: Ovarian Failure, Premature
Ovarian Failure, Premature 		Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases 0.010 1.000 1 2012 2012
dbSNP: rs20563
rs20563 		1.000 0.080 1 183116620 missense variant A/G snv 0.58 0.51
CUI: C0024141
Disease: Lupus Erythematosus, Systemic
Lupus Erythematosus, Systemic 		Skin and Connective Tissue Diseases; Immune System Diseases 0.010 1.000 1 2013 2013
dbSNP: rs2147578
rs2147578 		0.851 0.120 1 183138564 non coding transcript exon variant G/A;C snv
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		Neoplasms 0.010 1.000 1 2018 2018
dbSNP: rs2147578
rs2147578 		0.851 0.120 1 183138564 non coding transcript exon variant G/A;C snv
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		Neoplasms; Nervous System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs2147578
rs2147578 		0.851 0.120 1 183138564 non coding transcript exon variant G/A;C snv
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.010 1.000 1 2016 2016
dbSNP: rs2147578
rs2147578 		0.851 0.120 1 183138564 non coding transcript exon variant G/A;C snv
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		Neoplasms 0.010 1.000 1 2018 2018
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: rs10911251
rs10911251 		0.790 0.080 1 183112059 intron variant A/C snv 0.37
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 2 2013 2019
dbSNP: rs10911251
rs10911251 		0.790 0.080 1 183112059 intron variant A/C snv 0.37
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.700 1.000 2 2013 2019
dbSNP: rs10911251
rs10911251 		0.790 0.080 1 183112059 intron variant A/C snv 0.37
CUI: C0346629
Disease: Malignant neoplasm of large intestine
Malignant neoplasm of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 2 2013 2019
dbSNP: rs10911251
rs10911251 		0.790 0.080 1 183112059 intron variant A/C snv 0.37
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.700 1.000 2 2013 2019
dbSNP: rs10911251
rs10911251 		0.790 0.080 1 183112059 intron variant A/C snv 0.37
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		0.700 1.000 2 2013 2019
dbSNP: rs10911251
rs10911251 		0.790 0.080 1 183112059 intron variant A/C snv 0.37
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 2 2013 2019
dbSNP: rs10911251
rs10911251 		0.790 0.080 1 183112059 intron variant A/C snv 0.37
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 2 2013 2019
dbSNP: rs10911251
rs10911251 		0.790 0.080 1 183112059 intron variant A/C snv 0.37
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 1.000 2 2013 2019
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: 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: rs10911232
rs10911232 		1 183083398 intron variant C/T snv 0.33
CUI: C0020557
Disease: Hypertriglyceridemia
Hypertriglyceridemia 		Nutritional and Metabolic Diseases 0.700 1.000 1 2017 2017
dbSNP: rs3768617
rs3768617 		1.000 0.080 1 183123365 intron variant C/T snv 0.33
CUI: C0016781
Disease: Fuchs Endothelial Dystrophy
Fuchs Endothelial Dystrophy 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases 0.700 1.000 1 2017 2017
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