GGH, gamma-glutamyl hydrolase, 8836

N. diseases: 66; N. variants: 6
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: rs116323041
rs116323041 		8 63030489 intron variant A/C snv 9.8E-02
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs11545078
rs11545078 		0.807 0.200 8 63026205 missense variant G/A snv 8.8E-02 7.8E-02
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.020 1.000 2 2012 2015
dbSNP: rs11545078
rs11545078 		0.807 0.200 8 63026205 missense variant G/A snv 8.8E-02 7.8E-02
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.020 1.000 2 2012 2015
dbSNP: rs11545078
rs11545078 		0.807 0.200 8 63026205 missense variant G/A snv 8.8E-02 7.8E-02
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.020 1.000 2 2012 2015
dbSNP: rs1160209185
rs1160209185 		1.000 0.120 8 63038689 missense variant T/C snv 7.0E-06
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.020 1.000 2 2004 2018
dbSNP: rs11545078
rs11545078 		0.807 0.200 8 63026205 missense variant G/A snv 8.8E-02 7.8E-02
CUI: C0023418
Disease: leukemia
leukemia 		Neoplasms 0.010 1.000 1 2004 2004
dbSNP: rs11545078
rs11545078 		0.807 0.200 8 63026205 missense variant G/A snv 8.8E-02 7.8E-02
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2020 2020
dbSNP: rs11545078
rs11545078 		0.807 0.200 8 63026205 missense variant G/A snv 8.8E-02 7.8E-02
CUI: C0023467
Disease: Leukemia, Myelocytic, Acute
Leukemia, Myelocytic, Acute 		Neoplasms 0.010 1.000 1 2012 2012
dbSNP: rs16930092
rs16930092 		8 63027805 intron variant T/C snv 9.0E-02
CUI: C0027651
Disease: Neoplasms
Neoplasms 		Neoplasms 0.010 1.000 1 2015 2015
dbSNP: rs1800909
rs1800909 		1.000 0.120 8 63038753 missense variant A/G snv 0.24 0.24
CUI: C0003873
Disease: Rheumatoid Arthritis
Rheumatoid Arthritis 		Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Immune System Diseases 0.010 1.000 1 2018 2018
dbSNP: rs3758149
rs3758149 		0.882 0.120 8 63039169 upstream gene variant G/A snv 0.24
CUI: C0023449
Disease: Acute lymphocytic leukemia
Acute lymphocytic leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs3758149
rs3758149 		0.882 0.120 8 63039169 upstream gene variant G/A snv 0.24
CUI: C0023452
Disease: Childhood Acute Lymphoblastic Leukemia
Childhood Acute Lymphoblastic Leukemia 		Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases 0.010 1.000 1 2019 2019
dbSNP: rs3758149
rs3758149 		0.882 0.120 8 63039169 upstream gene variant G/A snv 0.24
CUI: C0751606
Disease: Adult Acute Lymphocytic Leukemia
Adult Acute Lymphocytic Leukemia 		0.010 1.000 1 2019 2019