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: rs1170155
rs1170155 		0.925 0.120 13 42128575 intron variant C/T snv 0.65
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1170155
rs1170155 		0.925 0.120 13 42128575 intron variant C/T snv 0.65
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs1170191
rs1170191 		13 42101357 intron variant A/G;T snv
CUI: C0525045
Disease: Mood Disorders
Mood Disorders 		Mental Disorders 0.010 1.000 1 2014 2014
dbSNP: rs17646069
rs17646069 		0.925 0.120 13 42229127 missense variant T/C snv 4.5E-02 2.7E-02
CUI: C0392525
Disease: Nephrolithiasis
Nephrolithiasis 		Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2017 2017
dbSNP: rs17646069
rs17646069 		0.925 0.120 13 42229127 missense variant T/C snv 4.5E-02 2.7E-02
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2017 2017
dbSNP: rs7981733
rs7981733 		0.925 0.120 13 42115924 intron variant C/A;T snv
CUI: C0022650
Disease: Kidney Calculi
Kidney Calculi 		Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases 0.010 1.000 1 2013 2013
dbSNP: rs9315897
rs9315897 		1.000 0.040 13 42164846 intron variant T/C snv 0.13
CUI: C0005586
Disease: Bipolar Disorder
Bipolar Disorder 		Mental Disorders 0.010 < 0.001 1 2011 2011
dbSNP: rs9525584
rs9525584 		0.925 0.040 13 42160758 intron variant T/C snv 0.46
CUI: C0865424
Disease: Adult attention deficit hyperactivity disorder
Adult attention deficit hyperactivity disorder 		Mental Disorders 0.010 1.000 1 2019 2019
dbSNP: rs994856
rs994856 		0.925 0.040 13 42134315 intron variant A/G snv 0.37
CUI: C0865424
Disease: Adult attention deficit hyperactivity disorder
Adult attention deficit hyperactivity disorder 		Mental Disorders 0.010 1.000 1 2019 2019