GSTK1, glutathione S-transferase kappa 1, 373156

N. diseases: 445; N. variants: 10
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: rs1242405057
rs1242405057 		0.925 0.080 7 143264093 missense variant G/A snv 1.4E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 0.500 2 2007 2010
dbSNP: rs1242405057
rs1242405057 		0.925 0.080 7 143264093 missense variant G/A snv 1.4E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 0.500 2 2007 2010
dbSNP: rs200469041
rs200469041 		0.851 0.200 7 143265021 missense variant G/A snv 7.6E-05 2.1E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.020 0.500 2 2007 2010
dbSNP: rs200469041
rs200469041 		0.851 0.200 7 143265021 missense variant G/A snv 7.6E-05 2.1E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.020 0.500 2 2007 2010
dbSNP: rs1047344644
rs1047344644 		7 143268092 missense variant C/A;T snv 8.0E-06; 8.0E-06
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs1047344644
rs1047344644 		7 143268092 missense variant C/A;T snv 8.0E-06; 8.0E-06
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2017 2017
dbSNP: rs1303234079
rs1303234079 		1.000 0.080 7 143267656 missense variant G/A snv 8.0E-06 1.4E-05
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		Digestive System Diseases; Infections 0.010 1.000 1 2016 2016
dbSNP: rs1422359334
rs1422359334 		0.925 0.040 7 143264131 missense variant C/A;T snv 4.0E-06
CUI: C0023530
Disease: Leukopenia
Leukopenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1422359334
rs1422359334 		0.925 0.040 7 143264131 missense variant C/A;T snv 4.0E-06
CUI: C0027947
Disease: Neutropenia
Neutropenia 		Hemic and Lymphatic Diseases 0.010 1.000 1 2016 2016
dbSNP: rs1917760
rs1917760 		7 143262206 intron variant G/A;T snv 1.8E-02
CUI: C0025517
Disease: Metabolic Diseases
Metabolic Diseases 		Nutritional and Metabolic Diseases 0.010 1.000 1 2009 2009
dbSNP: rs200469041
rs200469041 		0.851 0.200 7 143265021 missense variant G/A snv 7.6E-05 2.1E-05
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease 		Cardiovascular Diseases 0.010 1.000 1 2018 2018
dbSNP: rs200469041
rs200469041 		0.851 0.200 7 143265021 missense variant G/A snv 7.6E-05 2.1E-05
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		Immune System Diseases; Nervous System Diseases 0.010 1.000 1 2015 2015
dbSNP: rs756070089
rs756070089 		1.000 0.080 7 143268091 missense variant G/A snv 2.0E-05 1.4E-05
CUI: C1833104
Disease: DIABETES MELLITUS, PERMANENT NEONATAL
DIABETES MELLITUS, PERMANENT NEONATAL 		Nutritional and Metabolic Diseases; Endocrine System Diseases 0.010 1.000 1 2008 2008
dbSNP: rs764342874
rs764342874 		0.882 0.240 7 143263541 frameshift variant TCTTCTATGACGTGCTGTC/- delins 7.0E-06
CUI: C0268164
Disease: Primary hyperoxaluria, type I
Primary hyperoxaluria, type I 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2003 2003
dbSNP: rs764342874
rs764342874 		0.882 0.240 7 143263541 frameshift variant TCTTCTATGACGTGCTGTC/- delins 7.0E-06
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs764342874
rs764342874 		0.882 0.240 7 143263541 frameshift variant TCTTCTATGACGTGCTGTC/- delins 7.0E-06
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2008 2008
dbSNP: rs866838052
rs866838052 		0.851 0.160 7 143267618 missense variant C/A snv
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs866838052
rs866838052 		0.851 0.160 7 143267618 missense variant C/A snv
CUI: C1292769
Disease: Precursor B-cell lymphoblastic leukemia
Precursor B-cell lymphoblastic leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs866838052
rs866838052 		0.851 0.160 7 143267618 missense variant C/A snv
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		Neoplasms 0.010 1.000 1 2011 2011
dbSNP: rs866838052
rs866838052 		0.851 0.160 7 143267618 missense variant C/A snv
CUI: C0023485
Disease: Precursor B-Cell Lymphoblastic Leukemia-Lymphoma
Precursor B-Cell Lymphoblastic Leukemia-Lymphoma 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 < 0.001 1 2015 2015
dbSNP: rs866838052
rs866838052 		0.851 0.160 7 143267618 missense variant C/A snv
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs866838052
rs866838052 		0.851 0.160 7 143267618 missense variant C/A snv
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		Neoplasms; Skin and Connective Tissue Diseases 0.010 1.000 1 2017 2017
dbSNP: rs879097453
rs879097453 		1.000 0.080 7 143265168 missense variant G/A snv 4.1E-06
CUI: C0019196
Disease: Hepatitis C
Hepatitis C 		Digestive System Diseases; Infections 0.010 1.000 1 2016 2016