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: 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: 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: 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: 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: 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