Source: ALL

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs2073398
rs2073398
GGT1
22 24603137 intron variant C/G;T snv
CUI: C1278049
Disease: Serum gamma-glutamyl transferase measurement
Serum gamma-glutamyl transferase measurement 		0.800 1.000 1 2011 2011
dbSNP: rs4820599
rs4820599
GGT1 ; LRRC75B
0.925 0.160 22 24594246 intron variant A/G snv 0.43
CUI: C1278049
Disease: Serum gamma-glutamyl transferase measurement
Serum gamma-glutamyl transferase measurement 		0.700 1.000 2 2008 2011
dbSNP: rs2006092
rs2006092
GGT1
22 24599701 intron variant A/G snv 0.51
CUI: C1278049
Disease: Serum gamma-glutamyl transferase measurement
Serum gamma-glutamyl transferase measurement 		0.700 1.000 1 2019 2019
dbSNP: rs2006227
rs2006227
GGT1
22 24599789 intron variant C/A;T snv
CUI: C1278049
Disease: Serum gamma-glutamyl transferase measurement
Serum gamma-glutamyl transferase measurement 		0.700 1.000 1 2013 2013
dbSNP: rs2006227
rs2006227
GGT1
22 24599789 intron variant C/A;T snv
CUI: C0202202
Disease: Protein measurement
Protein measurement 		0.700 1.000 1 2013 2013
dbSNP: rs2330795
rs2330795
GGT1
22 24600615 intron variant G/A snv 0.42
CUI: C1278049
Disease: Serum gamma-glutamyl transferase measurement
Serum gamma-glutamyl transferase measurement 		0.700 1.000 1 2011 2011
dbSNP: rs4820599
rs4820599
GGT1 ; LRRC75B
0.925 0.160 22 24594246 intron variant A/G snv 0.43
CUI: C0202035
Disease: Gamma glutamyl transferase measurement
Gamma glutamyl transferase measurement 		0.700 1.000 1 2011 2011
dbSNP: rs4820599
rs4820599
GGT1 ; LRRC75B
0.925 0.160 22 24594246 intron variant A/G snv 0.43
CUI: C0428321
Disease: Measurement of liver enzyme
Measurement of liver enzyme 		0.700 1.000 1 2008 2008
dbSNP: rs4820599
rs4820599
GGT1 ; LRRC75B
0.925 0.160 22 24594246 intron variant A/G snv 0.43
CUI: C1287351
Disease: Finding of liver enzyme levels
Finding of liver enzyme levels 		0.700 1.000 1 2008 2008
dbSNP: rs5751901
rs5751901
GGT1
22 24596299 intron variant T/C snv 0.39
CUI: C1278049
Disease: Serum gamma-glutamyl transferase measurement
Serum gamma-glutamyl transferase measurement 		0.700 1.000 1 2008 2008
dbSNP: rs5751902
rs5751902
GGT1
1.000 0.080 22 24600663 intron variant C/T snv 0.29
CUI: C1278049
Disease: Serum gamma-glutamyl transferase measurement
Serum gamma-glutamyl transferase measurement 		0.700 1.000 1 2010 2010
dbSNP: rs5751902
rs5751902
GGT1
1.000 0.080 22 24600663 intron variant C/T snv 0.29
CUI: C0019163
Disease: Hepatitis B
Hepatitis B 		0.700 1.000 1 2011 2011
dbSNP: rs6004193
rs6004193
GGT1
22 24598329 intron variant T/A;C;G snv
CUI: C1278049
Disease: Serum gamma-glutamyl transferase measurement
Serum gamma-glutamyl transferase measurement 		0.700 1.000 1 2018 2018
dbSNP: rs9306395
rs9306395
GGT1 ; LRRC75B
22 24590177 intron variant G/A snv 0.29
CUI: C1278049
Disease: Serum gamma-glutamyl transferase measurement
Serum gamma-glutamyl transferase measurement 		0.700 1.000 1 2018 2018
dbSNP: rs4820599
rs4820599
GGT1 ; LRRC75B
0.925 0.160 22 24594246 intron variant A/G snv 0.43
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.020 1.000 2 2015 2016
dbSNP: rs1284566036
rs1284566036
GGT1
1.000 0.120 22 24615074 missense variant C/T snv 1.4E-05
CUI: C0011854
Disease: Diabetes Mellitus, Insulin-Dependent
Diabetes Mellitus, Insulin-Dependent 		0.010 1.000 1 2002 2002
dbSNP: rs1406402854
rs1406402854
GGT1
0.925 0.080 22 24614850 missense variant C/T snv
CUI: C0206729
Disease: Neurofibrosarcoma
Neurofibrosarcoma 		0.010 1.000 1 1999 1999
dbSNP: rs1406402854
rs1406402854
GGT1
0.925 0.080 22 24614850 missense variant C/T snv
CUI: C0751690
Disease: Malignant Peripheral Nerve Sheath Tumor
Malignant Peripheral Nerve Sheath Tumor 		0.010 1.000 1 1999 1999
dbSNP: rs4820599
rs4820599
GGT1 ; LRRC75B
0.925 0.160 22 24594246 intron variant A/G snv 0.43
CUI: C0032460
Disease: Polycystic Ovary Syndrome
Polycystic Ovary Syndrome 		0.010 1.000 1 2018 2018
dbSNP: rs561005732
rs561005732
GGT1
0.925 0.040 22 24627519 missense variant A/C;G snv 8.0E-06
CUI: C0524620
Disease: Metabolic Syndrome X
Metabolic Syndrome X 		0.010 1.000 1 2016 2016
dbSNP: rs561005732
rs561005732
GGT1
0.925 0.040 22 24627519 missense variant A/C;G snv 8.0E-06
CUI: C3714619
Disease: Insulin resistance syndrome
Insulin resistance syndrome 		0.010 1.000 1 2016 2016
dbSNP: rs757411384
rs757411384
GGT1
1.000 0.200 22 24623845 missense variant G/A;C snv 3.5E-05
CUI: C0268287
Disease: Deficiency of steroid 21-monooxygenase
Deficiency of steroid 21-monooxygenase 		0.010 1.000 1 2005 2005
dbSNP: rs765117998
rs765117998
GGT1
0.925 0.080 22 24628175 synonymous variant C/T snv 4.0E-06 2.8E-05
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.010 1.000 1 2011 2011
dbSNP: rs765117998
rs765117998
GGT1
0.925 0.080 22 24628175 synonymous variant C/T snv 4.0E-06 2.8E-05
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.010 1.000 1 2011 2011