PZP, PZP alpha-2-macroglobulin like, 5858

N. diseases: 24; 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: rs2277413
rs2277413 		12 9165188 missense variant A/G snv 0.32 0.31
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs6487668
rs6487668 		1.000 0.040 12 9200312 intron variant C/A snv 0.78
CUI: C0037369
Disease: Smoking
Smoking 		Behavior and Behavior Mechanisms 0.700 1.000 1 2019 2019
dbSNP: rs6487668
rs6487668 		1.000 0.040 12 9200312 intron variant C/A snv 0.78
CUI: C1269683
Disease: Major Depressive Disorder
Major Depressive Disorder 		Mental Disorders 0.700 1.000 1 2019 2019
dbSNP: rs7311982
rs7311982 		12 9162261 intron variant T/C snv 0.66
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs7968679
rs7968679 		1.000 0.040 12 9160708 intron variant A/C;G snv
CUI: C0027092
Disease: Myopia
Myopia 		Eye Diseases 0.700 1.000 1 2016 2016
dbSNP: rs200477595
rs200477595 		1.000 0.080 12 9157342 missense variant C/A;G;T snv 1.2E-05; 3.6E-05; 3.6E-05
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		Digestive System Diseases; Neoplasms 0.700 0
dbSNP: rs117889746
rs117889746 		12 9181030 stop gained G/A snv 6.6E-03 2.1E-03
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs117889746
rs117889746 		12 9181030 stop gained G/A snv 6.6E-03 2.1E-03
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2019 2019
dbSNP: rs145240281
rs145240281 		0.925 0.080 12 9168938 stop gained G/A snv 4.3E-03 3.3E-03
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2020 2020
dbSNP: rs145240281
rs145240281 		0.925 0.080 12 9168938 stop gained G/A snv 4.3E-03 3.3E-03
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2020 2020