LIMA1, LIM domain and actin binding 1, 51474

N. diseases: 34; N. variants: 7
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: rs34245511
rs34245511 		0.790 0.080 12 50179650 intron variant G/C snv 0.37
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.800 1.000 1 2014 2014
dbSNP: rs2160994
rs2160994 		12 50256274 non coding transcript exon variant T/C snv 0.75
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs2302900
rs2302900 		12 50205926 intron variant T/C snv 0.30
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs34245511
rs34245511 		0.790 0.080 12 50179650 intron variant G/C snv 0.37
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2014 2014
dbSNP: rs34245511
rs34245511 		0.790 0.080 12 50179650 intron variant G/C snv 0.37
CUI: C1837315
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 1
COLORECTAL CANCER, SUSCEPTIBILITY TO, 1 		0.700 1.000 1 2014 2014
dbSNP: rs34245511
rs34245511 		0.790 0.080 12 50179650 intron variant G/C snv 0.37
CUI: C0009404
Disease: Colorectal Neoplasms
Colorectal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2014 2014
dbSNP: rs34245511
rs34245511 		0.790 0.080 12 50179650 intron variant G/C snv 0.37
CUI: C2675481
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10
COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 		0.700 1.000 1 2014 2014
dbSNP: rs34245511
rs34245511 		0.790 0.080 12 50179650 intron variant G/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 1 2014 2014
dbSNP: rs34245511
rs34245511 		0.790 0.080 12 50179650 intron variant G/C snv 0.37
CUI: C3554460
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 12
COLORECTAL CANCER, SUSCEPTIBILITY TO, 12 		0.700 1.000 1 2014 2014
dbSNP: rs34245511
rs34245511 		0.790 0.080 12 50179650 intron variant G/C snv 0.37
CUI: C2677123
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 3
COLORECTAL CANCER, SUSCEPTIBILITY TO, 3 		0.700 1.000 1 2014 2014
dbSNP: rs34245511
rs34245511 		0.790 0.080 12 50179650 intron variant G/C snv 0.37
CUI: C1319315
Disease: Adenocarcinoma of large intestine
Adenocarcinoma of large intestine 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2014 2014
dbSNP: rs4883481
rs4883481 		12 50180528 intron variant T/A;C snv
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2019 2019
dbSNP: rs4883482
rs4883482 		12 50183134 intron variant A/G;T snv
CUI: C0007222
Disease: Cardiovascular Diseases
Cardiovascular Diseases 		Cardiovascular Diseases 0.700 1.000 1 2019 2019
dbSNP: rs140372565
rs140372565 		12 50248679 missense variant G/T snv 3.2E-04 7.7E-05
CUI: C4748092
Disease: LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 8
LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 8 		0.700 0
dbSNP: rs1555205375
rs1555205375 		12 50200826 frameshift variant CTCCTTTT/- delins
CUI: C4748092
Disease: LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 8
LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 8 		0.700 0