DGKH, diacylglycerol kinase eta, 160851

N. diseases: 39; N. variants: 24
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: rs4142110
rs4142110 		0.925 0.120 13 42180386 intron variant T/C snv 0.34
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.830 1.000 3 2012 2017
dbSNP: rs1012053
rs1012053 		1.000 0.040 13 42079301 intron variant C/A snv 0.85
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.800 1.000 1 2008 2008
dbSNP: rs7981733
rs7981733 		0.925 0.120 13 42115924 intron variant C/A;T snv
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.710 1.000 2 2012 2013
dbSNP: rs1170109
rs1170109 		13 42205558 intron variant G/T snv 0.22
CUI: C0201968
Disease: Cortisol Measurement
Cortisol Measurement 		0.700 1.000 1 2017 2017
dbSNP: rs12583267
rs12583267 		13 42201303 intron variant A/G snv 0.12
CUI: C0005845
Disease: Blood urea nitrogen measurement
Blood urea nitrogen measurement 		0.700 1.000 1 2018 2018
dbSNP: rs34445998
rs34445998 		13 42183077 intron variant C/G;T snv
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs347412
rs347412 		1.000 0.080 13 42212544 intron variant A/G;T snv
CUI: C0035227
Disease: Respiratory Function Tests
Respiratory Function Tests 		0.700 1.000 1 2014 2014
dbSNP: rs347412
rs347412 		1.000 0.080 13 42212544 intron variant A/G;T snv
CUI: C0004096
Disease: Asthma
Asthma 		Respiratory Tract Diseases; Immune System Diseases 0.700 1.000 1 2014 2014
dbSNP: rs347412
rs347412 		1.000 0.080 13 42212544 intron variant A/G;T snv
CUI: C0016529
Disease: Forced expiratory volume function
Forced expiratory volume function 		0.700 1.000 1 2014 2014
dbSNP: rs347413
rs347413 		13 42212904 intron variant G/A snv 0.21
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs4142110
rs4142110 		0.925 0.120 13 42180386 intron variant T/C snv 0.34
CUI: C0156257
Disease: Calculus of kidney and ureter
Calculus of kidney and ureter 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2012 2012
dbSNP: rs67332916
rs67332916 		13 42175575 intron variant C/G;T snv 0.11
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2018 2018
dbSNP: rs67332916
rs67332916 		13 42175575 intron variant C/G;T snv 0.11
CUI: C0201976
Disease: Creatinine measurement, serum (procedure)
Creatinine measurement, serum (procedure) 		0.700 1.000 1 2018 2018
dbSNP: rs73187288
rs73187288 		13 42164536 intron variant A/C;T snv 7.8E-02
CUI: C0871470
Disease: Systolic Pressure
Systolic Pressure 		0.700 1.000 1 2018 2018
dbSNP: rs7328064
rs7328064 		1.000 0.080 13 42171982 intron variant A/C snv 0.11
CUI: C0451641
Disease: Urolithiasis
Urolithiasis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2019 2019
dbSNP: rs912875
rs912875 		1.000 0.080 13 42103102 intron variant A/C;T snv
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2012 2012
dbSNP: rs9315891
rs9315891 		1.000 0.080 13 42124943 intron variant C/T snv 0.44
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.700 1.000 1 2012 2012
dbSNP: rs9533031
rs9533031 		13 42198581 synonymous variant G/A;T snv 2.8E-05; 0.47
CUI: C0005890
Disease: Body Height
Body Height 		0.700 1.000 1 2019 2019
dbSNP: rs9566910
rs9566910 		13 42076866 intron variant G/A snv 0.36
CUI: C0014859
Disease: Esophageal Neoplasms
Esophageal Neoplasms 		Digestive System Diseases; Neoplasms 0.700 1.000 1 2012 2012
dbSNP: rs9590675
rs9590675 		13 42175056 intron variant G/T snv 0.43
CUI: C0017654
Disease: Glomerular Filtration Rate
Glomerular Filtration Rate 		0.700 1.000 1 2019 2019
dbSNP: rs9594674
rs9594674 		13 42100731 intron variant C/T snv 0.14
CUI: C0200638
Disease: Eosinophil count procedure
Eosinophil count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs4142110
rs4142110 		0.925 0.120 13 42180386 intron variant T/C snv 0.34
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.030 1.000 3 2012 2017
dbSNP: rs9525580
rs9525580 		1.000 0.040 13 42146563 intron variant G/A snv 0.23
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.020 1.000 2 2016 2019
dbSNP: rs9525584
rs9525584 		0.925 0.040 13 42160758 intron variant T/C snv 0.46
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.020 1.000 2 2016 2019
dbSNP: rs994856
rs994856 		0.925 0.040 13 42134315 intron variant A/G snv 0.37
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.020 1.000 2 2016 2019